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

Pelin Tasdemir1, Ayse Gul Zamani2, Sennur S. Demirel3, Aynur Acar2
1Meram Medical Faculty, Blood Center, Selcuk University, Meram, Konya, Turkey
2Meram Medical Faculty, Department of Medical Genetics, Selcuk University, Meram, Konya, Turkey
3Meram Medical Faculty, Department of Medical Biology, Selcuk University, Meram, Konya, Turkey

Tóm tắt

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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Tài liệu tham khảo

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