Cargando…
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...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5551472/ https://www.ncbi.nlm.nih.gov/pubmed/28819573 http://dx.doi.org/10.1155/2017/4894515 |
_version_ | 1783256312962875392 |
---|---|
author | Carter, J. Brittain, H. Morrogh, D. Lench, N. Waters, J. J. |
author_facet | Carter, J. Brittain, H. Morrogh, D. Lench, N. Waters, J. J. |
author_sort | Carter, J. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5551472 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-55514722017-08-17 An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly Carter, J. Brittain, H. Morrogh, D. Lench, N. Waters, J. J. Case Rep Genet Case Report 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. Hindawi 2017 2017-07-27 /pmc/articles/PMC5551472/ /pubmed/28819573 http://dx.doi.org/10.1155/2017/4894515 Text en Copyright © 2017 J. Carter et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Carter, J. Brittain, H. Morrogh, D. Lench, N. Waters, J. J. An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly |
title | An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly |
title_full | An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly |
title_fullStr | An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly |
title_full_unstemmed | An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly |
title_short | An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly |
title_sort | interstitial 4q deletion with a mosaic complementary ring chromosome in a child with dysmorphism, linear skin pigmentation, and hepatomegaly |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5551472/ https://www.ncbi.nlm.nih.gov/pubmed/28819573 http://dx.doi.org/10.1155/2017/4894515 |
work_keys_str_mv | AT carterj aninterstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT brittainh aninterstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT morroghd aninterstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT lenchn aninterstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT watersjj aninterstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT carterj interstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT brittainh interstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT morroghd interstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT lenchn interstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly AT watersjj interstitial4qdeletionwithamosaiccomplementaryringchromosomeinachildwithdysmorphismlinearskinpigmentationandhepatomegaly |