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Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature

Authors :
P M Czarnecki
D. L. Van Dyke
G.L. Feldman
E.V. Bawle
J.V. Conard
Anne E. Wiktor
Source :
Annales de Génétique. 44:129-134
Publication Year :
2001
Publisher :
Elsevier BV, 2001.

Abstract

We describe two patients (first cousins, once removed) with an unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies. The patients were ascertained independently and it was initially unknown that they were related to each other. Cytogenetic and fluorescent in situ hybridization (FISH) analysis identified a der(2)t(2;10)(q37.3;q24.1) unbalanced translocation resulting in loss of 2q37.3-qter and duplication 10q24.1-qter. The clinical features of these two patients are compared with previously described cases of 2q deletion and 10q duplication. These patients also emphasize the difficulty in some families of understanding and sharing genetic information and in the difficulties in obtaining an accurate pedigree in a genetics clinic.

Details

ISSN :
00033995
Volume :
44
Database :
OpenAIRE
Journal :
Annales de Génétique
Accession number :
edsair.doi.dedup.....a7f1ea624810a53a6a58942b336867c8
Full Text :
https://doi.org/10.1016/s0003-3995(01)01083-8