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We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potential genes which may contribute to the phenotype. The identified triplication of 11q12.3 was 557 kb long and not embedded within the duplicated regions. The aberrant region was overlapped with the segment reported to be duplicated in 2 other patients. The common phenotypic features in the present patient and the previously reported patient were brain developmental delay, finger abnormalities (including arachnodactuly, camptodactyly, brachydactyly, clinodactyly, and broad thumbs), and preauricular pits. Triplications that are not embedded within duplicated regions are rare and sometimes observed as the consequence of non-allelic homologous recombination. The de novo triplication identified in the present study is novel and not embedded within the duplicated region. In the 11q12.3 region, many copy number variations were observed in the database. This may be the trigger of this rare triplication. Because the shortest region of overlap contained 2 candidate genes, STX5 and CHRM1, which show some relevance to neuronal functions, we believe that the genomic copy number gains of these genes may be responsible for the neurological features seen in these patients.",{"EN":185},"De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features",{"VOID":187},"[]",{"VOID":189},"Reddy KS, Logan JJ: Intrachromosomal triplications: molecular cytogenetic and clinical studies. Clin Genet 2000, 58(2):134–141.\nWang J, Reddy KS, Wang E, Halderman L, Morgan BL, Lachman RS, Lin HJ, Cornford ME: Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. Am J Med Genet 1999, 82(4):312–317.\nShimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T: Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res 2010, 89(2–3):303–309.\nBi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL: Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009, 41(2):168–177.\nShimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H: Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet 2012, 57(9):580–586.\nLiu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML: Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 2011, 20(10):1975–1988.\nShimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T: Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet 2012, 55(6–7):400–403.\nCarvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH: Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 2011, 43(11):1074–1081.\nSingleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R: alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003, 302(5646):841.\nJehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR: An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am. J. Med. Genet. A 2007, 143A(16):1912–1918.\nTyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L: Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 2005, 139(3):173–185.\nRavichandran V, Roche PA: Cloning and identification of human syntaxin 5 as a synaptobrevin\u002FVAMP binding protein. J Mol Neurosci 1997, 8(2):159–161.\nBennett MK, Garcia-Arraras JE, Elferink LA, Peterson K, Fleming AM, Hazuka CD, Scheller RH: The syntaxin family of vesicular transport receptors. Cell 1993, 74(5):863–873.\nSudhof TC, Rothman JE: Membrane fusion: grappling with SNARE and SM proteins. Science 2009, 323(5913):474–477.\nAnagnostaras SG, Murphy GG, Hamilton SE, Mitchell SL, Rahnama NP, Nathanson NM, Silva AJ: Selective cognitive dysfunction in acetylcholine M1 muscarinic receptor mutant mice. Nat Neurosci 2003, 6(1):51–58.\nScarr E, Cowie TF, Kanellakis S, Sundram S, Pantelis C, Dean B: Decreased cortical muscarinic receptors define a subgroup of subjects with schizophrenia. Mol Psychiatry 2009, 14(11):1017–1023.\nGibbons AS, Scarr E, McLean C, Sundram S, Dean B: Decreased muscarinic receptor binding in the frontal cortex of bipolar disorder and major depressive disorder subjects. J Affect Disord 2009, 116(3):184–191.\nLupski JR: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998, 14(10):417–422.\nGu W, Lupski JR: CNV and nervous system diseases–what's new? Cytogenet Genome Res 2008, 123(1–4):54–64.\nShastry BS: Copy number variation and susceptibility to human disorders (Review). Mol Med Report 2009, 2(2):143–147.\nKalman B, Vitale E: Structural chromosomal variations in neurological diseases. Neurologist 2009, 15(5):245–253.\nLee JA, Lupski JR: Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006, 52(1):103–121.\nYamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K: Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 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Clinical consultation based on etiology analysis are critical for reducing anxiety and distress. This study aimed to perform a comprehensive analysis for products of conception (POC) in miscarriage based on genetic etiology and clinical information.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>\u003Cjats:sec>\u003Cjats:title>Methods\u003C\u002Fjats:title>\u003Cjats:p>A retrospective study was conducted according to cytogenetic findings of 1252 POC from spontaneous pregnancy loss over 11 years. The frequencies and profiles of chromosomal abnormalities were discussed according to the classification of women with different maternal ages, previous miscarriage history, normal live birth history, and different modes of conception.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>\u003Cjats:sec>\u003Cjats:title>Results\u003C\u002Fjats:title>\u003Cjats:p>A total of 667 (53.2%) chromosomal abnormalities were observed, including 592 (47.3%) cases of numerical abnormalities, 38 (3.0%) cases of structural abnormalities, and 37 (3.0%) cases of mosaic aberrations. In women above 40 years of age, the rates of chromosomal abnormalities and viable autosomal trisomy were significantly higher than those in women with ≤ 29, 30–34, and 35–39 years of age (\u003Cjats:italic>p\u003C\u002Fjats:italic> < 0.05). The frequency of abnormal karyotype in women with normal live birth history was 61.1%, significantly higher than 52.5% in women without normal live birth history (\u003Cjats:italic>p\u003C\u002Fjats:italic> < 0.05). There was no significant differences among women without, with 1–2, and ≥ 3 previous miscarriages regarding the rate of abnormal karyotype (\u003Cjats:italic>p\u003C\u002Fjats:italic> > 0.05); viable autosomal trisomy was less common in women with ≥ 3 previous miscarriages than women with < 3 miscarriages. The frequency of chromosomal abnormalities was 49.0% and 55.0% in women with assisted conception and natural conception (\u003Cjats:italic>p\u003C\u002Fjats:italic> > 0.05), respectively; monosomy X was more frequently detected in women with natural conception than assisted conception.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>\u003Cjats:sec>\u003Cjats:title>Conclusion\u003C\u002Fjats:title>\u003Cjats:p>The frequencies and profiles of chromosomal abnormalities in early miscarriages are strongly associated with clinical information including maternal age, previous miscarriage, live birth history, and mode of conception. Cytogenetic analysis of POC should be recommended to women with a first miscarriage and women with normal live birth history.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>",{"EN":403},"Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral 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               \u003Cjats:title>Background\u003C\u002Fjats:title>\n                \u003Cjats:p>X\u002FY translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Results\u003C\u002Fjats:title>\n                \u003Cjats:p>This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X\u002FY translocations. Furthermore, cases with X\u002FY translocations reported in the literature and studies exploring the clinical genetic effects in patients with X\u002FY translocations were reviewed. All three female patients were carriers of X\u002FY translocations with different phenotypes. The karyotype for patient 1 was 46,X,der(X)t(X;Y)(p22.33;q12)mat, patient 2 was 46,X,der(X)t(X;Y)(q21.2;q11.2)dn, and patient 3 was 46,X,der(X)t(X;Y)(q28;q11.223)t(Y;Y)(q12;q11.223)mat. C-banding analysis of all three patients revealed a large heterochromatin region in the terminal region of the X chromosome. All patients underwent chromosomal microarray analysis, which revealed the precise copy number loss or gain. Data on 128 patients with X\u002FY translocations were retrieved from 81 studies; the phenotype of these patients was related to the breakpoint of the chromosome, size of the deleted region, and their sex. 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Eur J Hum Genet EJHG. 2000;8(1):54–62. https:\u002F\u002Fdoi.org\u002F10.1038\u002Fsj.ejhg.5200402.",{"doi":1604},"10.1038\u002Fsj.ejhg.5200402",{"id":18,"text":1606,"url":18,"identifiers":1607},"At T, Kp A, Jl S, et al. Deletion (X)(q261–>q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am J Hum Genet. 1993;52(3):463–71.",{},{"id":18,"text":1609,"url":18,"identifiers":1610},"Sarto GE, Therman E, Patau K. X inactivation in man: a woman with t(Xq−;12q+). Am J Hum Genet. 1973;25(3):262–70.",{},{"id":18,"text":1612,"url":18,"identifiers":1613},"Phelan JP, Upton RT, Summitt RL. Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea. Am J Obstet Gynecol. 1977;129(6):607–13. https:\u002F\u002Fdoi.org\u002F10.1016\u002F0002-9378(77)90640-8.",{"doi":1614},"10.1016\u002F0002-9378(77)90640-8",{"id":18,"text":1616,"url":18,"identifiers":1617},"Wolff DJ, Gustashaw KM, Zurcher V, et al. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. Hum Genet. 1997;100(2):256–61. https:\u002F\u002Fdoi.org\u002F10.1007\u002Fs004390050501.",{"doi":1618},"10.1007\u002Fs004390050501",{"id":18,"text":1620,"url":18,"identifiers":1621},"Franco B, Meroni G, Parenti G, et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995;81(1):15–25. https:\u002F\u002Fdoi.org\u002F10.1016\u002F0092-8674(95)90367-4.",{"doi":1622},"10.1016\u002F0092-8674(95)90367-4",{"id":18,"text":1624,"url":18,"identifiers":1625},"Yen PH, Allen E, Marsh B, et al. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell. 1987;49(4):443–54. https:\u002F\u002Fdoi.org\u002F10.1016\u002F0092-8674(87)90447-8.",{"doi":1626},"10.1016\u002F0092-8674(87)90447-8",{"id":18,"text":1628,"url":18,"identifiers":1629},"Gersen SL, Keagle MB. The principles of clinical cytogenetics. New York: Springer, 2012: pp. 175–211. https:\u002F\u002Flink.springer.com\u002Fchapter\u002F10.1007\u002F978-1-4419-1688-4_10.",{},{"id":18,"text":1631,"url":18,"identifiers":1632},"McElreavey K, Cortes LS. X-Y translocations and sex differentiation. Semin Reprod Med. 2001;19(2):133–9. https:\u002F\u002Fdoi.org\u002F10.1055\u002Fs-2001-15393.",{"doi":1633},"10.1055\u002Fs-2001-15393",{"id":18,"text":1635,"url":18,"identifiers":1636},"Freije D, Helms C, Watson MS, et al. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science (New York, NY). 1992;258(5089):1784–7. https:\u002F\u002Fdoi.org\u002F10.1126\u002Fscience.1465614.",{"doi":1637},"10.1126\u002Fscience.1465614",{"id":18,"text":1639,"url":18,"identifiers":1640},"Portnoi MF, Aboura A, Tachdjian G, et al. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod (Oxford, England). 2006;21(9):2329–34. https:\u002F\u002Fdoi.org\u002F10.1093\u002Fhumrep\u002Fdel174.",{"doi":1641},"10.1093\u002Fhumrep\u002Fdel174",{"id":1643,"createTime":1644,"updateTime":1645,"relativeEntities":1646,"slug":1647,"properties":1648,"entityType":192,"verifyStatus":193,"verifyTime":1659,"verifyNote":195,"languages":18,"translateLanguages":18,"viewCount":19,"primaryUrl":1660,"fullTextUrl":18,"authors":1661,"publicationType":317,"publisherRelationship":1832,"citationCount":18,"citationInfo":18,"publishDate":1899,"publishYear":1900,"citationAnalyzeStatus":1901,"lastCitationAnalyze":1645,"indexDatabases":1902,"openAccess":18,"references":18,"isForceReanalyzing":390},"eb3f9868-d78f-4d24-8147-996ad3772373","2024-01-25T07:55:07.448+00:00","2026-07-16T08:42:30.830+00:00",[],"A-novel-de-novo-microdeletion-at-17q11-2-adjacent-to-NF1-gene-associated-with-developmental-delay-short-stature-microcephaly-and-dysmorphic-features",{"abstract":1649,"title":1651,"gsPaper":1653,"references":1655,"doi":1657},{"EN":1650},"Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported. Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb de novo deletion at 17q11.2 adjacent to NF1 gene, which involves 43 RefSeq genes. We compared this with four overlapping deletions at this interval. A rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features. Seven genes, TAOK1, PHF12, NUFIP2, SLC26A4, SEZ6, GIT1 and TRAF4 are possible candidates for the clinical features of our patient. The delineation of this rare deletion and description of associated clinical phenotypes will help to understand the genotype-phenotype correlation of genomic imbalances at this locus.",{"EN":1652},"A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features",{"VOID":1654},"[\"11397906850033863922\"]",{"VOID":1656},"Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64.\nSagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, Burton H. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med. 2009;11(3):139–46.\nHochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet. 2009;52(4):161–9.\nKehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, et al. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet. 2004;75(3):410–23.\nDorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet. 2000;9(1):35–46.\nVenturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, et al. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet. 2004;41(1):35–41.\nKim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012;91(1):56–72.\nJensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet. 2005;76(2):227–36.\nQi Y, Jia H, Huang S, Lin H, Gu J, Su H, et al. A deletion mutation in the betaA1\u002FA3 crystallin gene (CRYBA1\u002FA3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet. 2004;114(2):192–7.\nGraw J. Genetics of crystallins: cataract and beyond. Exp Eye Res. 2009;88(2):173–89.\nYe X, Mehlen P, Rabizadeh S, VanArsdale T, Zhang H, Shin H, et al. TRAF family proteins interact with the common neurotrophin receptor and modulate apoptosis induction. J Biol Chem. 1999;274(42):30202–8.\nRegnier CH, Masson R, Kedinger V, Textoris J, Stoll I, Chenard MP, et al. Impaired neural tube closure, axial skeleton malformations, and tracheal ring disruption in TRAF4-deficient mice. Proc Natl Acad Sci U S A. 2002;99(8):5585–90.\nKim MH, Gunnersen JM, Tan SS. Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. Mech Dev. 2002;118(1–2):171–4.\nShimizu-Nishikawa K, Kajiwara K, Sugaya E. Cloning and characterization of seizure-related gene, SEZ-6. Biochem Biophys Res Commun. 1995;216(1):382–9.\nYu ZL, Jiang JM, Wu DH, Xie HJ, Jiang JJ, Zhou L, et al. Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. J Neurosci Res. 2007;85(1):166–72.\nde Anda FC, Rosario AL, Durak O, Tran T, Graff J, Meletis K, et al. Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex. Nat Neurosci. 2012;15(7):1022–31.\nKikuno R, Nagase T, Waki M, Ohara O. HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project. Nucleic Acids Res. 2002;30(1):166–8.\nWu MF, Wang SG. Human TAO kinase 1 induces apoptosis in SH-SY5Y cells. Cell Biol Int. 2008;32(1):151–6.\nDraviam VM, Stegmeier F, Nalepa G, Sowa ME, Chen J, Liang A, et al. A functional genomic screen identifies a role for TAO1 kinase in spindle-checkpoint signalling. Nat Cell Biol. 2007;9(5):556–64.\nRamamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, et al. Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci U S A. 1993;90(6):2542–6.\nAdamsen D, Meili D, Blau N, Thony B, Ramaekers V. Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L\u002FL promoter variants. Mol Genet Metab. 2011;102(3):368–73.\nBardoni B, Castets M, Huot ME, Schenck A, Adinolfi S, Corbin F, et al. 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet. 2003;12(14):1689–98.\nPasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, et al. Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient. Eur J Hum Genet. 2008;16(12):1459–66.\nZhang H, Webb DJ, Asmussen H, Niu S, Horwitz AF. A GIT1\u002FPIX\u002FRac\u002FPAK signaling module regulates spine morphogenesis and synapse formation through MLC. J Neurosci. 2005;25(13):3379–88.\nHong ST, Mah W. A critical role of GIT1 in vertebrate and invertebrate brain development. Exp Neurobiol. 2015;24(1):8–16.",{"VOID":1658},"10.1186\u002Fs13039-016-0251-y","2024-06-26T09:24:02.202+00:00","https:\u002F\u002Fmolecularcytogenetics.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs13039-016-0251-y",[1662,1677,1690,1703,1716,1729,1742,1755,1768,1781,1795,1809],{"id":1663,"sortIndex":19,"researcher":18,"roles":1664,"affiliations":1665,"properties":1674,"displayName":1676,"givenName":18,"familyName":18},"df270cd6-bf2b-4a40-8566-c25ca33e4833",[201],[1666],{"id":1667,"sortIndex":19,"affiliation":1668,"properties":18},"51768a44-f9f8-4b36-986a-8afb26037a0e",{"id":1667,"createTime":18,"updateTime":18,"relativeEntities":1669,"slug":18,"properties":1670,"entityType":18,"verifyStatus":18,"verifyTime":18,"verifyNote":18,"languages":18,"translateLanguages":18,"viewCount":18,"url":18,"parentIds":1673,"statistic":18},[],{"title":1671},{"VI":1672},"Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, China",[],{"title":1675},{"VI":1676},"Bobo Xie",{"id":1678,"sortIndex":158,"researcher":18,"roles":1679,"affiliations":1680,"properties":1687,"displayName":1689,"givenName":18,"familyName":18},"f64dbbf8-032c-48e4-867a-c07d5c653a31",[201],[1681],{"id":1667,"sortIndex":19,"affiliation":1682,"properties":18},{"id":1667,"createTime":18,"updateTime":18,"relativeEntities":1683,"slug":18,"properties":1684,"entityType":18,"verifyStatus":18,"verifyTime":18,"verifyNote":18,"languages":18,"translateLanguages":18,"viewCount":18,"url":18,"parentIds":1686,"statistic":18},[],{"title":1685},{"VI":1672},[],{"title":1688},{"VI":1689},"Xin 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An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encoding a major component of the excitatory and inhibitory synaptic organization, is considered as a good candidate to be responsible for this form of craniosynostosis. Moreover PTPRD is known to recruit multiple postsynaptic partners such as IL1RAPL1 which gene alterations lead to non syndromic intellectual disability (ID). We describe a 30 month old boy with severe intellectual disability, trigonocephaly and dysmorphic facial features such as a midface hypoplasia, a flat nose, a depressed nasal bridge, hypertelorism, a long philtrum and a drooping mouth. Microarray chromosomal analysis revealed the presence of a homozygous deletion involving the PTPRD gene, located on chromosome 9p22.3. Reverse Transcription PCR (RT-PCR) amplifications all along the gene failed to amplify the patient's cDNA in fibroblasts, indicating the presence of two null PTPRD alleles. Synaptic PTPRD interacts with IL1RAPL1 which defects have been associated with intellectual disability (ID) and autism spectrum disorder. The absence of the PTPRD transcript leads to a decrease in the expression of IL1RAPL1. These results suggest the direct involvement of PTPRD in ID, which is consistent with the PTPRD -\u002F- mice phenotype. Deletions of PTPRD have been previously suggested as a cause of trigonocephaly in patients with monosomy 9p and genome-wide association study suggested variations in PTPRD are associated with hearing loss. The deletion identified in the reported patient supports previous hypotheses on its function in ID and hearing loss. 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Congenit Anom. 2013;53:49–53.",{},{"id":2167,"text":2188,"url":2169,"identifiers":2189},"Ortiz B, Fabius AWM, Wu WH, Pedraza A, Brennan CW, Schultz N, et al. Loss of the tyrosine phosphatase PTPRD leads to aberrant STAT3 activation and promotes gliomagenesis. Proc Natl Acad Sci U S A. 2014;111:8149–54.",{"doi":2171},{"id":2167,"text":2191,"url":2169,"identifiers":2192},"Schaapveld RQ, Schepens JT, Bächner D, Attema J, Wieringa B, Jap PH, et al. Developmental expression of the cell adhesion molecule-like protein tyrosine phosphatases LAR, RPTPdelta and RPTPsigma in the mouse. Mech Dev. 1998;77:59–62.",{"doi":2171},{"id":2167,"text":2194,"url":2169,"identifiers":2195},"Mizuno K, Hasegawa K, Katagiri T, Ogimoto M, Ichikawa T, Yakura H. MPTP delta, a putative murine homolog of HPTP delta, is expressed in specialized regions of the brain and in the B-cell lineage. Mol Cell Biol. 1993;13:5513–23.",{"doi":2171},{"id":2167,"text":2197,"url":2169,"identifiers":2198},"Uetani N, Kato K, Ogura H, Mizuno K, Kawano K, Mikoshiba K, et al. Impaired learning with enhanced hippocampal long-term potentiation in PTPdelta-deficient mice. EMBO J. 2000;19:2775–85.",{"doi":2171},{"id":2167,"text":2200,"url":2169,"identifiers":2201},"Hendriks WJAJ, Elson A, Harroch S, Pulido R, Stoker A, den Hertog J. Protein tyrosine phosphatases in health and disease. FEBS J. 2013;280:708–30.",{"doi":2171},{"id":2167,"text":2203,"url":2169,"identifiers":2204},"Takahashi H, Craig AM. Protein tyrosine phosphatases PTPδ, PTPσ, and LAR. presynaptic hubs for synapse organization. Trends Neurosci. 2013;36:522–34.",{"doi":2171},{"id":2167,"text":2206,"url":2169,"identifiers":2207},"Yoshida T, Shiroshima T, Lee S-J, Yasumura M, Uemura T, Chen X, et al. Interleukin-1 receptor accessory protein organizes neuronal synaptogenesis as a cell adhesion molecule. J Neurosci Off J Soc Neurosci. 2012;32:2588–600.",{"doi":2171},{"id":2167,"text":2209,"url":2169,"identifiers":2210},"Rose E, Bramham J, Young S, Paliokostas E, Xenitidis K. Neuropsychological characteristics of adults with comorbid ADHD and borderline\u002Fmild intellectual disability. Res Dev Disabil. 2009;30:496–502.",{"doi":2171},{"id":2167,"text":2212,"url":2169,"identifiers":2213},"Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466:368–72.",{"doi":2171},{"id":2167,"text":2215,"url":2169,"identifiers":2216},"Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry. 2010;15:637–46.",{"doi":2171},{"id":2167,"text":2218,"url":2169,"identifiers":2219},"Swinkels MEM, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A. 2008;146A:1430–8.",{"doi":2171},{"id":2167,"text":2221,"url":2169,"identifiers":2222},"Shimojima K, Yamamoto T. Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. Am J Med Genet A. 2009;149A:1076–80.",{"doi":2171},{"id":2167,"text":2224,"url":2169,"identifiers":2225},"Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JTR, Forrest C, et al. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A. 2003;117A:127–35.",{"doi":2171},{"id":2167,"text":2227,"url":2169,"identifiers":2228},"Chiusaroli R, Knobler H, Luxenburg C, Sanjay A, Granot-Attas S, Tiran Z, et al. Tyrosine phosphatase epsilon is a positive regulator of osteoclast function in vitro and in vivo. Mol Biol Cell. 2004;15:234–44.",{"doi":2171},{"id":2167,"text":2230,"url":2169,"identifiers":2231},"Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d’ Adamo AP, et al. Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. J Med Genet. 2011;48:369–74.",{"doi":2171},{"id":2167,"text":2233,"url":2169,"identifiers":2234},"Girotto G, Vuckovic D, Buniello A, Lorente-Cánovas B, Lewis M, Gasparini P, et al. Expression and replication studies to identify new candidate genes involved in normal hearing function. PloS One. 2014;9:e85352.",{"doi":2171},{"id":2167,"text":2236,"url":2169,"identifiers":2237},"Distel MA, Carlier A, Middeldorp CM, Derom CA, Lubke GH, Boomsma DI. Borderline personality traits and adult attention-deficit hyperactivity disorder symptoms: a genetic analysis of comorbidity. Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet. 2011;156B:817–25.",{"doi":2171},{"id":2239,"createTime":2240,"updateTime":2241,"relativeEntities":2242,"slug":2243,"properties":2244,"entityType":192,"verifyStatus":193,"verifyTime":2253,"verifyNote":195,"languages":18,"translateLanguages":18,"viewCount":19,"primaryUrl":2254,"fullTextUrl":18,"authors":2255,"publicationType":317,"publisherRelationship":2422,"citationCount":19,"citationInfo":2487,"publishDate":2490,"publishYear":2488,"citationAnalyzeStatus":17,"lastCitationAnalyze":2491,"indexDatabases":2492,"openAccess":18,"references":2493,"isForceReanalyzing":390},"fbaca16b-7223-457d-8031-ee10c500eebc","2024-01-02T15:33:53.787+00:00","2026-07-08T03:49:00.121+00:00",[],"Prenatal-diagnosis-of-Down-syndrome-combined-with-transient-abnormal-myelopoiesis-in-foetuses-with-a-GATA1-gene-variant-two-case-reports",{"abstract":2245,"title":2247,"gsPaper":2249,"doi":2251},{"EN":2246},"Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down syndrome combined with TAM or ML-DS. Some patients with TAM are asymptomatic and may also present with severe manifestations such as hepatosplenomegaly and hydrops. We report two cases of prenatally diagnosed TAM. One case was a rare placental low percentage 21 trisomy mosiacism, resulting in the occurrence of a false negative NIPT. The final diagnosis was made at 36 weeks of gestation when ultrasound revealed significant enlargement of the foetal liver and spleen and an enlarged heart; the foetus eventually died in utero. We detected a placenta with a low percentage (5–8%) of trisomy 21 mosiacism by Copy Number Variation Sequencing (CNV-seq) and Fluorescence in situ hybridization (FISH). In another case, foetal oedema was detected by ultrasound at 31 weeks of gestation. Two foetuses were diagnosed with Down syndrome by chromosomal microarray analysis via umbilical vein puncture and had significantly elevated cord blood leucocyte counts with large numbers of blasts. The GATA1 Sanger sequencing results suggested the presence of a [NM_002049.4(GATA1):c.220G > A (p. Val74Ile)] hemizygous variant and a [NM_002049.4(GATA1):c.49dupC(p. Gln17ProfsTer23)] hemizygous variant of the GATA1 gene in two cases. It seems highly likely that these two identified mutations are the genetic cause of prenatal TAM in foetuses with Down syndrome.",{"EN":2248},"Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case 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Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221–7. https:\u002F\u002Fdoi.org\u002F10.1002\u002Fmrdd.20157.","https:\u002F\u002Fdoi.org\u002F10.1002\u002Fmrdd.20157",{"mag":2498,"openalex":2499,"pm":2500,"doi":2501},"1996765504","W1996765504","17910090","10.1002\u002Fmrdd.20157",{"id":18,"text":2503,"url":2504,"identifiers":2505},"Massey GV, Zipursky A, Chang MN, Doyle JJ, Nasim S, Taub JW, Ravindranath Y, Dahl G, Weinstein HJ, Children’s Oncology G. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children’s Oncology Group (COG) study POG-9481. 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