Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family

Pelin Tasdemir 1 , Ayse Zamani 2 , Sennur Demirel 3 ,  and Aynur Acar 2
  • 1 Meram Medical Faculty, Blood Center, Selcuk University, 42090, Meram, Konya, Turkey
  • 2 Meram Medical Faculty, Department of Medical Genetics, Selcuk University, 42090, Meram, Konya, Turkey
  • 3 Meram Medical Faculty, Department of Medical Biology, Selcuk University, 42090, Meram, Konya, Turkey


Distal trisomy 10q is a well delineated but a rare syndrome with characteristic phenotypic features. We present clinical and cytogenetic data on a 7 day-old girl with distal 10q trisomy (10q24→qter), due to maternal t(10;22) reciprocal translocation. Her karyotype showed an unbalanced translocation between chromosomes 10 and 22, resulting in trisomy of the distal part of the long arm of chromosome 10q24.

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