Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der...

Descripción completa

Detalles Bibliográficos
Autores principales: Vundinti, Babu Rao, Kerketta, Lily, Korgaonkar, Seema, Ghosh, Kanjaksha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168152/
https://www.ncbi.nlm.nih.gov/pubmed/21957340
http://dx.doi.org/10.4103/0971-6866.32033
_version_ 1782211349079654400
author Vundinti, Babu Rao
Kerketta, Lily
Korgaonkar, Seema
Ghosh, Kanjaksha
author_facet Vundinti, Babu Rao
Kerketta, Lily
Korgaonkar, Seema
Ghosh, Kanjaksha
author_sort Vundinti, Babu Rao
collection PubMed
description We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient.
format Online
Article
Text
id pubmed-3168152
institution National Center for Biotechnology Information
language English
publishDate 2007
publisher Medknow Publications
record_format MEDLINE/PubMed
spelling pubmed-31681522011-09-28 Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3) Vundinti, Babu Rao Kerketta, Lily Korgaonkar, Seema Ghosh, Kanjaksha Indian J Hum Genet Case Report We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient. Medknow Publications 2007 /pmc/articles/PMC3168152/ /pubmed/21957340 http://dx.doi.org/10.4103/0971-6866.32033 Text en © 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
Vundinti, Babu Rao
Kerketta, Lily
Korgaonkar, Seema
Ghosh, Kanjaksha
Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
title Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
title_full Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
title_fullStr Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
title_full_unstemmed Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
title_short Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
title_sort dandy-walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168152/
https://www.ncbi.nlm.nih.gov/pubmed/21957340
http://dx.doi.org/10.4103/0971-6866.32033
work_keys_str_mv AT vundintibaburao dandywalkermalformationsinacaseofpartialtrisomy9pp121pterduetomaternaltranslocationt912p121p133
AT kerkettalily dandywalkermalformationsinacaseofpartialtrisomy9pp121pterduetomaternaltranslocationt912p121p133
AT korgaonkarseema dandywalkermalformationsinacaseofpartialtrisomy9pp121pterduetomaternaltranslocationt912p121p133
AT ghoshkanjaksha dandywalkermalformationsinacaseofpartialtrisomy9pp121pterduetomaternaltranslocationt912p121p133

Ejemplares similares