PMID- 25204484
OWN - NLM
STAT- MEDLINE
DCOM- 20150622
LR  - 20140910
IS  - 1735-3947 (Electronic)
IS  - 1029-2977 (Linking)
VI  - 17
IP  - 9
DP  - 2014 Sep
TI  - Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH 
      (aCGH).
PG  - 642-4
AB  - 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 1.7 Mb 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).
FAU - Saberi, Alihossein
AU  - Saberi A
AD  - Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapour 
      university of Medical Sciences, Ahvaz, Iran Narges Genetic Lab, Ahvaz, Iran. 
      ahsaberi70@hotmail.com.
FAU - Shariati, Gholamreza
AU  - Shariati G
AD  - Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapour 
      university of Medical Sciences, Ahvaz, Iran Narges Genetic Lab, Ahvaz, Iran.
FAU - Hamid, Mohammad
AU  - Hamid M
AD  - Narges Genetic Lab, Ahvaz, Iran Department of molecular Medicine, Biotechnology 
      section, Research Center, Pasteur institute of Iran, Tehran, Iran.
FAU - Galehdari, Hamid
AU  - Galehdari H
AD  - Narges Genetic Lab, Ahvaz, Iran Department of Genetics, Faculty of Sciences, 
      Shahid Chamran university, Ahvaz, Iran.
FAU - Abdorasouli, Nehzat
AU  - Abdorasouli N
AD  - Narges Genetic Lab, Ahvaz, Iran.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Iran
TA  - Arch Iran Med
JT  - Archives of Iranian medicine
JID - 100889644
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - *Comparative Genomic Hybridization/methods
MH  - Female
MH  - Humans
MH  - *Karyotype
MH  - Karyotyping
MH  - Wolf-Hirschhorn Syndrome/diagnosis/*genetics
EDAT- 2014/09/11 06:00
MHDA- 2015/06/24 06:00
CRDT- 2014/09/11 06:00
PHST- 2014/09/11 06:00 [entrez]
PHST- 2014/09/11 06:00 [pubmed]
PHST- 2015/06/24 06:00 [medline]
AID - 0013 [pii]
PST - ppublish
SO  - Arch Iran Med. 2014 Sep;17(9):642-4.