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

Tasdemir Pelin, Zamani Ayse, Demirel Sennur and 1 more

Open Medicine · 2012

doi:10.2478/s11536-011-0162-6 (opens in a new tab)

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Abstract

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.

Abstract licence: CC BY-NC-ND

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