Unknown

Dataset Information

0

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


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.

SUBMITTER: Carter J 

PROVIDER: S-EPMC5551472 | biostudies-other | 2017

REPOSITORIES: biostudies-other

Similar Datasets

| S-EPMC6090767 | biostudies-literature
| S-EPMC9354344 | biostudies-literature
| S-EPMC10521253 | biostudies-literature
| S-EPMC4287802 | biostudies-literature
| S-EPMC3047285 | biostudies-literature
| S-EPMC7343397 | biostudies-literature
| S-EPMC7666322 | biostudies-literature
| S-EPMC4781737 | biostudies-literature
| S-EPMC7396461 | biostudies-literature
| S-EPMC4753195 | biostudies-literature