Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.

Autor:	Sivasankaran A; Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences, University of Madras, India., Srikanth A; Center for Human Genetics, Biotech Park, Electronic City Phase I, Bangalore, India., Kulshreshtha PS; Center for Human Genetics, Biotech Park, Electronic City Phase I, Bangalore, India., Anuradha D; Department of Medical Genetics, Institute of Obstetrics and Gynecology, Government Hospital for Women and Children, Madras Medical College, Chennai, India., Kadandale JS; Center for Human Genetics, Biotech Park, Electronic City Phase I, Bangalore, India., Samuel CR; Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences, University of Madras, India.
Jazyk:	angličtina
Zdroj:	Molecular syndromology [Mol Syndromol] 2016 Feb; Vol. 6 (6), pp. 287-96. Date of Electronic Publication: 2016 Feb 03.
DOI:	10.1159/000443708
Abstrakt:	Split hand/foot malformation (SHFM) or ectrodactyly is a rare genetic condition affecting limb development. SHFM shows clinical and genetic heterogeneity. It can present as an isolated form or in combination with additional anomalies affecting the long bones (nonsyndromic form) or other organ systems including the craniofacial, genitourinary and ectodermal structures (syndromic ectrodactyly). This study reports a girl with SHFM who also exhibited developmental delay, mild dysmorphic facial features and sensorineural hearing loss. High-resolution banding analysis indicated an interstitial deletion within the 7q21 band. FISH using locus-specific BAC probes confirmed the microdeletion of 7q21.3. Chromosomal microarray analysis also revealed a microdeletion of 1.856 Mb in 7q21.3. However, a larger 8.44-Mb deletion involving bands 7q21.11q21.2 was observed, and the breakpoints were refined. The phenotype and the candidate genes underlying the pathogenesis of this disorder are discussed.
Databáze:	MEDLINE
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