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Case Reports
. 1983;26(2):123-8.

Three interesting cases of Down's syndrome

A Pérez-Castillo, J Del Mazo, J A Abrisqueta
  • PMID: 6225371
Case Reports

Three interesting cases of Down's syndrome

A Pérez-Castillo et al. Ann Genet. 1983.

Abstract

The results of the cytogenetic study of three families that have children affected by Down's syndrome are presented. The karyotype of case 1 was 48,XY,+21,22s+,+mar; the marker chromosome had been produced "de novo". Case 2 was: 47,X,t(Xq21q), +t(21qXq); the abnormality had been produced "de novo". Case 3 was carrier of a homogeneous trisomy 21 (47,XY,+21), where the mother was carrier of a balanced translocation 13q14q. CBG, GTG, Ag-NOR, QFQ and FPG banding techniques were used to determine the origin and importance of these anomalies.

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