PMID- 23227376
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20121211
LR  - 20211021
IS  - 2090-6552 (Electronic)
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Linking)
VI  - 2012
DP  - 2012
TI  - Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by 
      FISH: Case Reports.
PG  - 878796
LID - 10.1155/2012/878796 [doi]
LID - 878796
AB  - The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene 
      syndrome resulting from the deletion encompassing a 4p16.3 region. A 
      microscopically visible terminal deletion on chromosome 4p (4p16-->pter) was 
      detected in Case 1 with full blown features of WHS. The second case which had an 
      interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 
      presented with less striking clinical features of WHS and had an apparently 
      "normal" karyotype. The severity of the clinical presentation was as a result of 
      haploinsufficiency and interaction with surrounding genes as well as mutations in 
      modifier genes located outside the WHSCR regions. The study emphasized that an 
      individual with a strong clinical suspicion of chromosomal abnormality and a 
      normal conventional cytogenetic study should be further investigated using 
      molecular cytogenetic techniques such as fluorescence in situ hybridization 
      (FISH) or array-comparative genomic hybridization (a-CGH).
FAU - Sheth, F
AU  - Sheth F
AD  - FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, 
      India.
FAU - Akinde, O R
AU  - Akinde OR
FAU - Datar, C
AU  - Datar C
FAU - Adeteye, O V
AU  - Adeteye OV
FAU - Sheth, J
AU  - Sheth J
LA  - eng
PT  - Journal Article
DEP - 20121122
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC3512217
EDAT- 2012/12/12 06:00
MHDA- 2012/12/12 06:01
PMCR- 2012/11/22
CRDT- 2012/12/11 06:00
PHST- 2012/09/20 00:00 [received]
PHST- 2012/10/24 00:00 [accepted]
PHST- 2012/12/11 06:00 [entrez]
PHST- 2012/12/12 06:00 [pubmed]
PHST- 2012/12/12 06:01 [medline]
PHST- 2012/11/22 00:00 [pmc-release]
AID - 10.1155/2012/878796 [doi]
PST - ppublish
SO  - Case Rep Genet. 2012;2012:878796. doi: 10.1155/2012/878796. Epub 2012 Nov 22.