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

Molecular Syndromology

Deenadayalu Anuradha¹  Pooja S. Kulshreshtha¹  Aswini Sivasankaran¹  Jayarama S. Kadandale¹  Chandra R. Samuel¹  Ambika Srikanth¹ 

[1]aDepartment of Genetics, Dr. ALM PG Institute of Basic Medical Sciences, University of Madras, India

关键词: BAC-FISH;    Chromosomal microarray;    Developmental delay;    Ectrodactyly;    High-resolution banding;    SHFM1;   

DOI  :  10.1159/000443708

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown