Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation

Authors
Lukusa, T Devriendt, K Jaeken, J Fryns, JP
Citation
T. Lukusa et al., Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation, CLIN DYSMOR, 8(1), 1999, pp. 47-51
Citations number
22
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
1
Year of publication
1999
Pages
47 - 51
Database
ISI
SICI code
0962-8827(199901)8:1<47:MDSITM>2.0.ZU;2-X
Abstract
We report two male sibs with minor congenital anomalies and moderate to sev ere developmental delay who are trisomic for the interstitial 2q32.1-->q35 segment. The partial 2q duplication derived from a maternal balanced insert ion translocation, 46,XX,dir ins (14;2)(q22;q32.1q35). To the best of our k nowledge, no similar case observation has been previously published. Clin D ysmorphol 8: 47-51 (C) 1999 Lippincott Williams & Wilkins.