Cargando…
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. Th...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096895/ https://www.ncbi.nlm.nih.gov/pubmed/21504564 http://dx.doi.org/10.1186/1750-1172-6-17 |
_version_ | 1782203759231762432 |
---|---|
author | Roberti, Maria Cristina Surace, Cecilia Digilio, Maria Cristina D'Elia, Gemma Sirleto, Pietro Capolino, Rossella Lombardo, Antonietta Tomaiuolo, Anna Cristina Petrocchi, Stefano Angioni, Adriano |
author_facet | Roberti, Maria Cristina Surace, Cecilia Digilio, Maria Cristina D'Elia, Gemma Sirleto, Pietro Capolino, Rossella Lombardo, Antonietta Tomaiuolo, Anna Cristina Petrocchi, Stefano Angioni, Adriano |
author_sort | Roberti, Maria Cristina |
collection | PubMed |
description | Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content. |
format | Text |
id | pubmed-3096895 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-30968952011-05-19 Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome Roberti, Maria Cristina Surace, Cecilia Digilio, Maria Cristina D'Elia, Gemma Sirleto, Pietro Capolino, Rossella Lombardo, Antonietta Tomaiuolo, Anna Cristina Petrocchi, Stefano Angioni, Adriano Orphanet J Rare Dis Case Report Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content. BioMed Central 2011-04-19 /pmc/articles/PMC3096895/ /pubmed/21504564 http://dx.doi.org/10.1186/1750-1172-6-17 Text en Copyright ©2011 Roberti et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Roberti, Maria Cristina Surace, Cecilia Digilio, Maria Cristina D'Elia, Gemma Sirleto, Pietro Capolino, Rossella Lombardo, Antonietta Tomaiuolo, Anna Cristina Petrocchi, Stefano Angioni, Adriano Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
title | Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
title_full | Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
title_fullStr | Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
title_full_unstemmed | Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
title_short | Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
title_sort | complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096895/ https://www.ncbi.nlm.nih.gov/pubmed/21504564 http://dx.doi.org/10.1186/1750-1172-6-17 |
work_keys_str_mv | AT robertimariacristina complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT suracececilia complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT digiliomariacristina complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT deliagemma complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT sirletopietro complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT capolinorossella complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT lombardoantonietta complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT tomaiuoloannacristina complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT petrocchistefano complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome AT angioniadriano complexchromosomerearrangementsrelated15q14microdeletionplaysarelevantroleinphenotypeexpressionanddelineatesanovelrecurrentsyndrome |