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De novo 6.9 Mb interstitial deletion on chromosome 4q31.1‐q32.1 in a girl with severe speech delay and dysmorphic features
Author(s) -
Fabretto Antonella,
Rocca Maria Santa,
Perrone Maria Dolores,
Skabar Aldo,
Pecile Vanna,
Gasparini Paolo
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35239
Subject(s) - genetics , chromosome , long arm , girl , terminal (telecommunication) , speech delay , phenotype , biology , gene , computer science , telecommunications
Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3‐q32.1 segment, detected by SNPs‐Array technique in a 4‐year‐old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype–genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described. © 2012 Wiley Periodicals, Inc.