Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family-Reference-Cited by-同舟云学术

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

Published:2012-06-01 Issue:3 Volume:7 Page:366-370
ISSN:2391-5463
Container-title:Open Medicine
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Author:

Tasdemir Pelin¹,Zamani Ayse²,Demirel Sennur³,Acar Aynur²

Affiliation:

1. 1Meram Medical Faculty, Blood Center, Selcuk University, 42090, Meram, Konya, Turkey

2. 2Meram Medical Faculty, Department of Medical Genetics, Selcuk University, 42090, Meram, Konya, Turkey

3. 3Meram Medical Faculty, Department of Medical Biology, Selcuk University, 42090, Meram, Konya, Turkey

Abstract

AbstractDistal 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.

Publisher

Walter de Gruyter GmbH

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.2478/s11536-011-0162-6.pdf

Reference17 articles.

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4. Klep-de Pater J.M., Bijlsma J.B., De Franche H.F., Leschot N.J., Duijn-Dam-Van Den Berge M., Van Hemel J.O., Partial trisomy 10q. A recognizable syndrome, Hum Genet, 1979, 46, 29–40

5. Taysi K.. Yang V., Monaghan N., Beraha N., Partial trisomy 10q in three unrelated patients, Ann Genet, 1983, 26, 79–85

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