Incomplete trisomy 22

Alfi OS, Sanger RG, Donnell GM (1975) Trisomy 22.A clinically identifiable syndrome. Birth Defects 11:241–245 Al Saadi A, Yang SS, Singla P (1977) Partial trisomy of chromosomes 22 and 16 in a microphtalmic infant. Am J Hum Genet 29:18A Aurias A, Turc C, Michiels Y, Sinet PM, Graveleau D, Lejeune J (1975) Deux cas de trisomie 11q(q231→qter) par translocation t(11;22)(q23;q111) dans deux familles differentes. Ann Genet (Paris) 18:185–188 Ayraud N, Galiana A, Lloyd M, Deswarte M (1976) Trisomie 11q(q23.1→qter) par translocation maternelle t(11; 22)(q23.1;q11.1). Une nouvelle observation. Ann Genet (Paris) 19:65–68 Bader PI, Jansch M, Hoffman D, Palmer CG, Gerber H, Taylor G (1978) Trisomy 11q(q21→qter). Birth Defects 14:383–392 Bass HN, Crandall BF, Sparkes RS (1973) Probable trisomy 22 identified by fluorescent and trypsin-Giemsa banding. Ann Genet (Paris) 16:189–192 Begleiter ML, Kulkarni P, Harris DJ (1976)Confirmation of trisomy 22 by trypsin-Giemsa staining. J Med Genet 13:517–520 Biederman BM, Lin CC, Lowry RB, Somerville R (1980) Tertiary trisomy (22q11q),47,+der(22),t(11;22). Hum Genet 53:173–177 Bofinger MK, Soukup SW (1977) Cat's eye syndrome. Partial trisomy 22 due to translocation in the mother. Am J Dis Child 131:893–897 Borgaonkar DS, McKusick VA, Farber PA (1973) An inherited small extra chromosome. A mother with 46,XX,t(17;22) (p1;q1) and a son with 47,XY,+der(22)mat. J Med Genet 10:379–384 Bühler EM, Méhes K, Müller H, Stalder GR (1972) Cat's eye syndrome, a partial trisomy 22. Hum Genet 15:150–162 Curcio S (1967) Malformazione del retto e della vagina associata ad anomalia cromosomica (47,XX,?G+). Arch Ostet Ginecol 72:533–539 Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS (1976) Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet 73:501–506 Feldman GM, Sparkes RS (1978) The problem of partial trisomy 22 reconsidered. Hum Genet 45:97–101 Fitzgerald PH (1976) Evidence that chromosome band 22q12 is concerned with cell proliferation in chronic myeloid leukaemia. Hum Genet 33:269–274 Foerster W, Fuhrmann W, Gutermuth M (1975) Partielle Trisomie 22 bei fraglichem Cat eye-Syndrom. Verh Ges Anthrop Humang. G. Fischer, Stuttgart, p 233 Francke U, Weber F, Sparkes RS, Mattson PD, Mann J (1977) Duplication 11 (q21 to 23→qter) syndrome. Birth Defects 13:167–186 Garlinger P, McGeary SA, Magenis E (1977) Partial trisomy 22: a recognizable syndrome. Clin Genet 12:9–16 Giraud F, Mattei JF, Mattei MG, Bernard R (1975) Trisomie partielle 11q et translocation familiale 11–22. Hum Genet 28:343–347 Gustavson KH, Hitrec V, Santesson B (1972) Three nonmongoloid patients of similar phenotype with an extra G-like chromosome. Clin Genet 3:135–146 Hall B (1963) Mongolism and other abnormalities in a family with trisomy 21–22 tendency. Acta Paediatr Scand Suppl 146:77–91 Hollingworth F, Kim CM, Falek A (1979) Partial trisomy 11q with familial 11q;21q translocation. Mammalian Chromosome Newsl 20:19 Hsu LYF, Shapiro LR, Gertner M, Lieber E, Hirschhorn K (1971) Trisomy 22: a clinical entity.J Pediatr 79:12–19 Ishmael J, Laurence KM (1965) A probable case of incomplete trisomy of a chromosome of the 13–15 group. J Med Genet 2:136–141 Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J (1973) An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23:568–585 Jotterand-Bellomo M (1976/77) Trisomie 22. Arch Genet (Zur) 49/50:134–166 Kadotani T, Katano T, Yamaoka H, Murakami M, Nakamoto Y, Watanabe Y(1978a) Clinical and cytogenetic features of a case with trisomy 22. Proc Jpn Acad 54:Ser B, 163–166 Kadotani T, Katano T, Yamaoka H, Murakami M, Nakamoto Y, Watanabe Y (1979b) A case of partial trisomy 22 without cat-eye stigmata. Proc Jpn Acad 54: Ser B, 217–221 Kessel E, Pfeiffer RA (1977) 47,XY,+der(11;22)(q23;q12)following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22. Hum Genet 37:111–116 Laurent C, Biemont MC, Bethenod M, Cret L, David M (1975) Deux observations de trisomie 11q(q23.1→qter) avec la même anomalie des organes génitaux externes. Ann Genet (Paris) 18:179–184 Lindsten J, Therkelsen AJ,Friedrich U, Jonasson J, Steenstrup OR, Wiquist N (1974) Prenatal cytogenetic diagnosis. Int J Gynaecol Obstet 12:101–111 Lozzio CB (1969) Nonmongoloid trisomy G. Birth Defects 5:64–66 Macintyre MN, Hempel JM, Walden DB, Miller RC, Greene AE, Coriell LL (1975) A (17;22) translocation, balanced, 46 chromosomes. Repository identification No.GM-119. Cytogenet Cell Genet 14:80–81 Macintyre MN, Walden DB, Hempel JM (1971) Tertiary trisomy in a human kindred containing a E/G translocation. Am J Hum Genet 23:431–441 Malpuech G, Menut G, Raynaud EJ, Lavignon A (1970) Trisomie libre concernant un petit acrocentrique chez un sujet féminin non mongolien. trisomie 22 ou trisomie partielle. Pédiatrie 8:901–910 Moore MK, Engel E (1968) G chromosome trisomy: five cases with syndromes other than classical Down's. Southern Med J 61:146–154 Nakai H, Yamamoto Y, Kuroki Y (1979) Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. Hum Genet 51:349–355 Narahara K, Kodama Y, Kimura S, Kamoi M, Inoue H, Kimoto H (1979) A case of partial trisomy 22 resulting from maternal 11/22 translocation. Jpn J Hum Genet 24:253–258 Niermeijer MF, Sachs ES, Jahodava M, Tichelaar-Klepper C, Kleijer WJ, Galjaard H (1976) Prenatal diagnosis of genetic disorders. J Med Genet 13:182–194 Noel B, Levy M, Rethoré MO (1976) Trisomie partielle du bras long du chromosome 11 par malségrégation d'une translocation maternelle t(11;22)(q231;q111). Ann Genet (Paris) 19:137–139 Pai GS, Thomas GH, Leonard CO, Ward JC, Valle DL, Pyeritz RE (1979) Syndromes due to chromosomal abnormalities: partial trisomy 22, interstitial deletion of the long arm of chromosome 13, and trisomy 8. John Hopkins Med J 145:162–169 Parslow M, Hoo JJ, Garry M, Rose F (1980) A deleted extra chromosome 22 identified by DNA replication banding. Hum Genet 53:323–326 Penchaszadeh VB, Coco R (1975) Trisomy 22. Two new cases and delineation of the phenotype. J Med Genet 12:193–199 Petersen F, Dahl G (1977) Trisomi 22q-. Ugeskr Laeger 139:3061 Punnett HH, Kistenmacher ML, Toro-Sola MA, Kohn G (1973) Quinacrine fluorescence and Giemsa banding in trisomy 22. Theor Appl Genet 43:134–138 Ridler MA, McKeown JA (1979) 11q aneuploidy: partial monosomy and trisomy in the children of a mother with a (3;11)(p27;q23) translocation. Hum Genet 52:101–106 Schinzel A (1981a) Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Hum Genet 56:263–268 Schinzel A (1981b) Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 56:269–273 Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zeterqvist P, Enell H, Bacichetti C, Tenconi R, Pagon RA (1981) The “Cat eye syndrome”: Dicentric small marker chromosome probably derived from a No.22 (tetrasomy 22pter→q11) associated with a characteristic phenotype. Report of 11 cases and delineation of the clinical picture. Hum Genet (in press) Shanske A, Acs H, Kazi R (1979) Secondary meiotic nondisjunction in a carrier of a reciprocal translocation (11;22). Am J Hum Genet 31:110A Shokeir MHK (1980) Complete trisomy 22. Clin Genet 14:139–146 Uchida IA, Byrnes EM (1976) Confirmation of trisomy 22 with fluorescence banding. Am J Hum Genet 30:189–190 Uchida IA, Ray M, McRae KN, Besant DF (1968) Familial occurrence of trisomy 22. Am J Hum Genet 20:107–118 Zellweger H, Ionasescu V, Simpson J, Burmeister L (1976) The problem of trisomy 22. A case report and a discussion of the variant forms. Clin Pediat 15:601–618 Zellweger H, Mikamo K, Abbo G (1962) Two cases of multiple malformations with an autosomal chromosomal aberration. partial trisomy D? Helv Paediatr Acta 17:290–300 Zergollern L, Hitrec V (1979) Partial trisomy 22. Acta Med Iugosl 33:459–470