Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

Seminars in Pediatric Neurology - Tập 19 - Trang 173-180 - 2012
Leigh Anne Flore1, Jeff M. Milunsky1
1Center for Human Genetics, Inc., Cambridge, MA

Tài liệu tham khảo

Peterson, 1998, Classification of developmental delays, Semin Pediatr Neurol, 5, 2, 10.1016/S1071-9091(98)80012-0 Michelson, 2011, Evidence report: Genetic and metabolic testing on children with global developmental delay. Report of the Quality Standards Subcommittee of the American Academy and the Practice Committee of the Child Neurology Society, Neurology, 77, 1629, 10.1212/WNL.0b013e3182345896 Accardo, 1995, Intellectual disability, 73 Luckasson, 1992 Aradhya, 2007, Whole-genome array-CGH identified novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features, Am J Med Genet A, 143A, 1431, 10.1002/ajmg.a.31773 Friedman, 2006, Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation, Am J Hum Genet, 79, 500, 10.1086/507471 Shaffer, 2006, Targeted genomic microarray analysis for identification of chromosome abnormalities in 150 consecutive clinical cases, J Pediatr, 149, 98, 10.1016/j.jpeds.2006.02.006 Miller, 2010, Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet, 86, 749, 10.1016/j.ajhg.2010.04.006 Wain, 2011, Clinical utility of chromosomal microarray testing, Mayo Med Lab Commun, 36, 1 McGillivray, 2012, Genetic counselling and ethical issues with chromosome microarray analysis in a prenatal setting, Prenat Diagn, 32, 389, 10.1002/pd.3849 Schaaf, 2011, Copy number and SNP arrays in clinical diagnostics, Ann Rev Genomics Hum Genet, 12, 25, 10.1146/annurev-genom-092010-110715 Shaw-Smith, 2004, Microarray based comparative genomic hybridisation (array CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features, J Med Genet, 41, 241, 10.1136/jmg.2003.017731 Brunetti-Pierri, 2008, Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities, Nat Genet, 40, 1466, 10.1038/ng.279 Mefford, 2008, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes, N Engl J Med, 359, 1685, 10.1056/NEJMoa0805384 Battaglia, 2008, Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation, Pediatrics, 121, 404, 10.1542/peds.2007-0929 Gajecka, 2007, Monosomy 1p36 deletion syndrome, Am J Med Genet C Semin Med Genet, 145, 346, 10.1002/ajmg.c.30154 Shapira, 1997, Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome, Am J Hum Genet, 61, 642, 10.1086/515520 van Bon, 2009, Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome, J Med Genet, 46, 511, 10.1136/jmg.2008.063412 Masurel-Paulet, 2010, Delineation of 15q13.3 microdeletions, Clin Genet, 78, 149, 10.1111/j.1399-0004.2010.01374.x Ben-Shachar, 2009, Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders, J Med Genet, 46, 382, 10.1136/jmg.2008.064378 Mefford, 2012, Further clinical and molecular delineation of the 15q24 microdeletion syndrome, J Med Genet, 49, 110, 10.1136/jmedgenet-2011-100499 Ng, 2011, An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature, Twin Res Hum Genet, 14, 333, 10.1375/twin.14.4.333 Weiss, 2008, Autism Consortium; association between microdeletion and microduplication at 16p11.2 and autism, N Engl J Med, 358, 667, 10.1056/NEJMoa075974 Shinawi, 2010, Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size, J Med Genet, 47, 332, 10.1136/jmg.2009.073015 Koolen, 2008, Clinical and molecular delineation of the 17q21.31 microdeletion syndrome, J Med Genet, 45, 710, 10.1136/jmg.2008.058701 Shaw-Smith, 2006, Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability, Nat Genet, 38, 1032, 10.1038/ng1858 Ensenauer, 2003, Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients, Am J Hum Genet, 73, 1027, 10.1086/378818 Girirajan, 2010, A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay, Nat Genet, 42, 203, 10.1038/ng.534 Hook, 1977, Exclusion of chromosomal mosaicism, Am J Hum Genet, 29, 94 Conlin, 2010, Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism analysis, Hum Mol Genet, 19, 1263, 10.1093/hmg/ddq003 Hoffbuhr, 2001, MeCP2 mutations in children with and without the phenotype of Rett syndrome, Neurology, 56, 1486, 10.1212/WNL.56.11.1486 Van Esch, 2005, Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males, Am J Hum Genet, 77, 442, 10.1086/444549 Williams, 2010, Clinical and genetic aspects of Angelman syndrome, Genet Med, 12, 385, 10.1097/GIM.0b013e3181def138 Dagli, 1993, Angelman Syndrome. [Updated 2011 Jun 16] Christianson, 1999, X-linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27, J Med Genet, 36, 759, 10.1136/jmg.36.10.759 Schroer, 2010, Natural history of Christianson syndrome, Am J Med Genet A, 152A, 2775, 10.1002/ajmg.a.33093 Bahi-Buisson, 2008, Key clinical features to identify girls with CDKL5 mutations, Brain, 131, 2647, 10.1093/brain/awn197 Takano, 2010, Two percent of patients suspected of having Angelman syndrome have TCF4 mutations, Clin Genet, 78, 282, 10.1111/j.1399-0004.2010.01380.x Cassidy, 1993, Prader-Willi Syndrome. [Updated 2009 Sep 3] Butler, 2005, Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations, J Med Genet, 42, 318, 10.1136/jmg.2004.024646 Varga, 2009, The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay and macrocephaly, Genet Med, 11, 111, 10.1097/GIM.0b013e31818fd762 Blumenthal, 2008, PTEN hamartoma tumor syndromes, Eur J Human Genet, 16, 1289, 10.1038/ejhg.2008.162 Stevenson, 2002, Clinical and molecular contributions to the understanding of X-linked mental retardation, Cytogenet Genome Res, 99, 265, 10.1159/000071603 De Brouwer, 2007, Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium, Hum Mutat, 28, 207, 10.1002/humu.9482 Orstavik, 2009, X chromosome inactivation in clinical practice, Hum Genet, 126, 363, 10.1007/s00439-009-0670-5 Vissers, 2010, A de novo paradigm for mental retardation, Nat Genet, 42, 1109, 10.1038/ng.712 Kearney, 2011, American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities, Genet Med, 13, 676, 10.1097/GIM.0b013e31822272ac