An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An...

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Bibliographic Details
Main Authors: J. Carter, H. Brittain, D. Morrogh, N. Lench, J. J. Waters
Format: Article
Language:English
Published: Wiley 2017-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2017/4894515
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