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Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   SEPTEMBER 2014 , Volume 17 , Number 9; Page(s) 642 To 644.
 
Paper: 

WOLF-HIRSCHHORN SYNDROME: A CASE WITH NORMAL KARYOTYPE, DEMONSTRATED BY ARRAY CGH (ACGH) (CASE REPORT)

 
 
Author(s):  SABERI ALIHOSSEIN*, SHARIATI GHOLAMREZA, HAMID MOHAMMAD, GALEHDARI HAMID, ABDORASOULI NEHZAT
 
* DEPARTMENT OF MEDICAL GENETICS, FACULTY OF MEDICINE, AHVAZ JUNDISHAPOUR UNIVERSITY OF MEDICAL SCIENCES, AHVAZ, IRAN, NARGES GENETIC LAB, NO. 18, EAST MIHAN, KIANPARS, AHVAZ, IRAN
 
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).

 
Keyword(s): ARRAY CGH, WOLF, HIRSCHHORN SYNDROME, 4P16.3 DELETION
 
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