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16q subtelomeric deletion in proband with congenital malformations and mental retardation

Vorsanova S.G., Yurov Y.B., Kolotii A.D., Demidova I.A., Novikova I.M.

 




We present a female child with mild mental retardation and congenital malformations. After fluorescence in situ hybridization (FISH) we found only abnormal karyotype in all cells. We used rapid FISH and original DNA probes--PAC62.10.1 and PAC20.19.N, specific for segments of chromosome 16q24. Karyotype of proband 46,XX.ish del(16)(q24.2:) (PAC20.19.N,PAC62.10.1-). Parent karyotypes are normal. This case may suggest the presence of clinical picture 16q- with defined clinical polymorphism at small telomeric loss, and also its necessary of the use of molecular-cytogenetic techniques in genetic departments.

Tsitologiya i Genetika 2000, vol. 34, no. 6, pp. 72-74

Institute of Pediatrics and Children Surgery, Ministry of Health, Moscow



Vorsanova S.G., Yurov Y.B., Kolotii A.D., Demidova I.A., Novikova I.M. 16q subtelomeric deletion in proband with congenital malformations and mental retardation, Tsitol Genet., 2000, vol. 34, no. 6, pp. 72-74.




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