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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 533091.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.
Authors:Jakubiczka, S.; Schröder, C.; Ullmann, Reinhard; Volleth, M.; Ledig, S.; Gilberg, E.; Kroisel, P.; P. Wieacker, P.
Date of Publication (YYYY-MM-DD):2010-05-04
Title of Journal:Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Journal Abbrev.:Sex. Dev.
Issue / Number:3
Start Page:143
End Page:149
Copyright:© 2010 S. Karger AG, Basel
Review Status:not specified
Audience:Experts Only
Abstract / Description:Campomelic dysplasia (MIM 114290) is a severe malformation
syndrome frequently accompanied by male-to-female
sex reversal. Causative are mutations within the SOX9 gene
on 17q24.3 as well as chromosomal aberrations (translocations,
inversions or deletions) in the vicinity of SOX9 . Here, we
report on a patient with muscular hypotonia, craniofacial
dysmorphism, cleft palate, brachydactyly, malformations of
thoracic spine, and gonadal dysgenesis with female external
genitalia and müllerian duct derivatives in the presence
of a male karyotype. X-ray examination and clinical examinations revealed no signs of campomelia. The combination of molecular cytogenetic analysis and array CGH revealed
an unbalanced translocation between one chromosome 7
and one chromosome 17 [46,XY,t(7; 17)(q33;q24).ish t(7; 17)
(wcp7+,wcp17+;wcp7+wcp17+)] with a deletion of approximately
4.2 Mb located about 0.5 Mb upstream of SOX9 . STS
analysis confirmed the deletion of chromosome 17, which
has occurred de novo on the paternal chromosome. The
proximal breakpoint on chromosome 17 is localized outside the known breakpoint cluster regions. The deletion on chromosome 17q24 removes several genes. Among these genes PRKAR1A is deleted. Inactivating mutations of PRKAR1A cause Carney complex. To our knowledge, this is the first report of a patient with acampomelic campomelic dysplasia, carrying
both a deletion and a translocation.
Free Keywords:Acampomelic campomelic dysplasia;
Sex reversal;
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institute of Human Genetics, University Hospital, Magdeburg, Germany;
2.Children’s Hospital, University Hospital Greifswald,
Greifswald, Germany;
3.Institute of Human Genetics, University Hospital
Münster, Münster, Germany;
4.Dietrich Bonhoeffer Hospital, Neubrandenburg, Germany;
5.Institute of Human Genetics,
Graz, Austria.
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