English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
Add to Basket
 Local TagsRelease HistoryDetailsSummary
  Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.

Semerci, C. N., Cinbis, M., Ullmann, R., Steininger, A., Bahce, M., Yagci, B., et al. (2010). Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. American Journal of Medical Genetics Part A, 152A(7), 1724-1729. doi:10.1002/ajmg.a.33383.

Item is

 

show all hide all

Basic

show hide
Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7AFE-6 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7AFF-4
Genre: Journal Article
Alternative Title : Am. J. of Med. Genet. Part A

Files

show Files
hide Files
:
33383_ftp.pdf (Any fulltext), 172KB
 
File Permalink:
-
Name:
33383_ftp.pdf
Description:
-
OA-Status:
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: MPG
License:
-

Locators

show

Creators

show
hide
 Creators:
Semerci, C. Nur, Author
Cinbis, Mine, Author
Ullmann, Reinhard1, Author           
Steininger, Anne1, Author           
Bahce, Muhterem, Author
Yagci, Baki, Author
Ozden, Serap, Author
Sabir, Nuran, Author
Gumus, Dilihan, Author
Tepeli, Emre, Author
Arteaga, Jazmín, Author
Mutchinick, Osvaldo M., Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

Content

show
hide
Free keywords: subtelomeric 6p deletion; partial trisomy 12q; FISH; aCGH
 Abstract: We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes. © 2010

Details

show
hide
Language(s): eng - English
 Dates: 2010-05-27
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 534116
URI: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33383/pdf
DOI: 10.1002/ajmg.a.33383
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: American Journal of Medical Genetics Part A
  Alternative Title : Am. J. of Med. Genet. Part A
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 152A (7) Sequence Number: - Start / End Page: 1724 - 1729 Identifier: ISSN: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33383/pdf