Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

BACKGROUND: Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. CASE CHARACTERISTICS: A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic...

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Autores principales: Sheth, Frenny, Liehr, Thomas, Shah, Krati, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510909/
https://www.ncbi.nlm.nih.gov/pubmed/26203302
http://dx.doi.org/10.1186/s13039-015-0163-2
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author Sheth, Frenny
Liehr, Thomas
Shah, Krati
Sheth, Jayesh
author_facet Sheth, Frenny
Liehr, Thomas
Shah, Krati
Sheth, Jayesh
author_sort Sheth, Frenny
collection PubMed
description BACKGROUND: Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. CASE CHARACTERISTICS: A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. RESULTS: Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father. DISCUSSION: Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child.
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spelling pubmed-45109092015-07-23 Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation Sheth, Frenny Liehr, Thomas Shah, Krati Sheth, Jayesh Mol Cytogenet Case Report BACKGROUND: Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. CASE CHARACTERISTICS: A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. RESULTS: Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father. DISCUSSION: Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child. BioMed Central 2015-07-22 /pmc/articles/PMC4510909/ /pubmed/26203302 http://dx.doi.org/10.1186/s13039-015-0163-2 Text en © Sheth et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Sheth, Frenny
Liehr, Thomas
Shah, Krati
Sheth, Jayesh
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
title Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
title_full Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
title_fullStr Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
title_full_unstemmed Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
title_short Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
title_sort prader-willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a robertsonian translocation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510909/
https://www.ncbi.nlm.nih.gov/pubmed/26203302
http://dx.doi.org/10.1186/s13039-015-0163-2
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