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Case Reports
. 2017:2017:4894515.
doi: 10.1155/2017/4894515. Epub 2017 Jul 27.

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

J Carter  1 , H Brittain  1 , D Morrogh  1 , N Lench  2 , J J Waters  1
Affiliations
Case Reports

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

J Carter et al. Case Rep Genet. 2017.

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.

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Figures

Figure 1
Figure 1
Nimblegen 135 K WG CGH v.3.1 microarray, chromosome 4.
Figure 2
Figure 2
Affymetrix 750 K SNP Array, chromosome 4.
Figure 3
Figure 3
WCP probe for chromosome 4.
Figure 4
Figure 4
Red signal = RP11-158016 4q13.1 (also hybridizes to 4q31); green signal = 4 pter.
Figure 5
Figure 5
Comparison of 4q11-q21.1 deletion patients from the literature and databases.
See this image and copyright information in PMC

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