Logo-aim
Arch Iran Med. 2014;17(9):0-0.
PMID: 25204484
Scopus id: 84906928865
  Abstract View: 393
  PDF Download: 313

Case Report

Wolf-Hirschhorn Syndrome: A Case with Normal Karyotype, Demonstrated by Array CGH (aCGH)

Alihossein Saberi * , Gholamreza Shariati, Mohammad Hamid, Hamid Galehdari, Nehzat Abdorasouli

Abstract

Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and had an apparently normal karyotype. Array comparative genomic hybridization performed on the DNA extracted from peripheral blood revealed loss of 1.7Mb at 4q16.3-q15.3. Taken together, this data suggests that a patient with strong clinical suspicion of chromosome abnormality and normal conventional karyotype analysis should be further evaluated by molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH) or fluorescence in situ hybridization (FISH).

First name
 
Last name
 
Email address
 
Comments
 
Security code


Article Viewed: 393

Your browser does not support the canvas element.


PDF Downloaded: 313

Your browser does not support the canvas element.

First published online: 01 Sep 2014
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - FireFox Plugin)