An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly. (27th July 2017)

• Record Type: Journal Article
• Authors: Carter, J.; Brittain, H.; Morrogh, D.; Lench, N.; Waters, J. J.
• Other Names: Melegh Béla Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2017(2017)
• Publication Date: 2017-07-27
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2017/4894515
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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 additional small ring chromosome was detected in 5/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6 Mb deletion. Further microarray studies in the proband using a different microarray platform showed no evidence of mosaicism. This case highlights the importance of an integrated approach to cytogenetic analysis and demonstrates the value of G-banding for detecting mosaicism, as current microarray platforms are unable to detect low level mosaics.