Cargando…
Terminal 4q Deletion Syndrome
Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardatio...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371530/ https://www.ncbi.nlm.nih.gov/pubmed/22707778 http://dx.doi.org/10.4103/0019-5154.96203 |
_version_ | 1782235217218502656 |
---|---|
author | Kuldeep, C M Khare, A K Garg, Anubhav Mittal, Asit Gupta, Lalit |
author_facet | Kuldeep, C M Khare, A K Garg, Anubhav Mittal, Asit Gupta, Lalit |
author_sort | Kuldeep, C M |
collection | PubMed |
description | Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies. |
format | Online Article Text |
id | pubmed-3371530 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-33715302012-06-15 Terminal 4q Deletion Syndrome Kuldeep, C M Khare, A K Garg, Anubhav Mittal, Asit Gupta, Lalit Indian J Dermatol Case Report Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3371530/ /pubmed/22707778 http://dx.doi.org/10.4103/0019-5154.96203 Text en Copyright: © Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Kuldeep, C M Khare, A K Garg, Anubhav Mittal, Asit Gupta, Lalit Terminal 4q Deletion Syndrome |
title | Terminal 4q Deletion Syndrome |
title_full | Terminal 4q Deletion Syndrome |
title_fullStr | Terminal 4q Deletion Syndrome |
title_full_unstemmed | Terminal 4q Deletion Syndrome |
title_short | Terminal 4q Deletion Syndrome |
title_sort | terminal 4q deletion syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371530/ https://www.ncbi.nlm.nih.gov/pubmed/22707778 http://dx.doi.org/10.4103/0019-5154.96203 |
work_keys_str_mv | AT kuldeepcm terminal4qdeletionsyndrome AT khareak terminal4qdeletionsyndrome AT garganubhav terminal4qdeletionsyndrome AT mittalasit terminal4qdeletionsyndrome AT guptalalit terminal4qdeletionsyndrome |