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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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/4894515 |
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| author | J. Carter H. Brittain D. Morrogh N. Lench J. J. Waters |
| author_facet | J. Carter H. Brittain D. Morrogh N. Lench J. J. Waters |
| author_sort | J. Carter |
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| 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 | Article |
| id | doaj-art-9027efb0947f4084a5fe885c473c545c |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9027efb0947f4084a5fe885c473c545c2025-02-03T05:50:28ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/48945154894515An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and HepatomegalyJ. Carter0H. Brittain1D. Morrogh2N. Lench3J. J. Waters4NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKNE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKNE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKCongenica Ltd., Wellcome Trust Campus, Hinxton, Cambridge CB10 15A, UKNE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKInterstitial 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.http://dx.doi.org/10.1155/2017/4894515 |
| spellingShingle | J. Carter H. Brittain D. Morrogh N. Lench J. J. Waters An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2017/4894515 |
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