Cargando…
Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping
The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758737/ https://www.ncbi.nlm.nih.gov/pubmed/24019632 http://dx.doi.org/10.4103/0971-6866.116105 |
_version_ | 1782477169344118784 |
---|---|
author | Ranjan, Prabhat Desai, Kundanbala Saxena, Shailaja Gada |
author_facet | Ranjan, Prabhat Desai, Kundanbala Saxena, Shailaja Gada |
author_sort | Ranjan, Prabhat |
collection | PubMed |
description | The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chromosome 6p arising from complex chromosomal rearrangement in the father. Karyotyping is the basic, cost-effective preliminary investigation in a child with mental subnormality or congenital anomalies. |
format | Online Article Text |
id | pubmed-3758737 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-37587372013-09-09 Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping Ranjan, Prabhat Desai, Kundanbala Saxena, Shailaja Gada Indian J Hum Genet Case Report The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chromosome 6p arising from complex chromosomal rearrangement in the father. Karyotyping is the basic, cost-effective preliminary investigation in a child with mental subnormality or congenital anomalies. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3758737/ /pubmed/24019632 http://dx.doi.org/10.4103/0971-6866.116105 Text en Copyright: © Indian Journal of Human Genetics 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 Ranjan, Prabhat Desai, Kundanbala Saxena, Shailaja Gada Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping |
title | Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping |
title_full | Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping |
title_fullStr | Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping |
title_full_unstemmed | Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping |
title_short | Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping |
title_sort | derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: significance of parental karyotyping |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758737/ https://www.ncbi.nlm.nih.gov/pubmed/24019632 http://dx.doi.org/10.4103/0971-6866.116105 |
work_keys_str_mv | AT ranjanprabhat derivativechromosome11inachildresultingfromacomplexrearrangementinvolvingchromosomes36and11infathersignificanceofparentalkaryotyping AT desaikundanbala derivativechromosome11inachildresultingfromacomplexrearrangementinvolvingchromosomes36and11infathersignificanceofparentalkaryotyping AT saxenashailajagada derivativechromosome11inachildresultingfromacomplexrearrangementinvolvingchromosomes36and11infathersignificanceofparentalkaryotyping |