PMID- 23169702
OWN - NLM
STAT- MEDLINE
DCOM- 20130807
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 158A
IP  - 12
DP  - 2012 Dec
TI  - A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a 
      patient with split-hand/split-foot malformation.
PG  - 3201-6
LID - 10.1002/ajmg.a.35644 [doi]
AB  - Split-hand/split-foot malformation (SHFM1) has been reported to be caused by 
      deletions, duplications or rearrangements involving the 7q21.3 region harboring 
      DSS1, DLX5, and DLX6. We report on a female patient with unilateral syndactyly of 
      the third and fourth fingers of the right hand and overgrowth and lateral 
      deviation of the right great toe. There was a split foot malformation on the 
      right, with absent fifth toe. The left hand was apparently normal and left foot 
      was intact. The patient has no hearing loss. We performed conventional G-banding 
      karyotype analysis, array comparative genomic hybridization (aCGH) and 
      fluorescence in situ hybridization (FISH). G-banding karyotype result was normal 
      46,XX. However, a duplication of 719 kb (96,303,736-97,022,335; NCBI 
      build36/hg18, March 2006) was identified at the 7q21.3 region by aCGH. The array 
      result was also confirmed by FISH analysis. The duplicated region harbors only 
      DLX5 and DLX6, which are known for their role in SHFM1. Additionally, FISH 
      analysis of parental samples showed de novo origin of this abnormality in the 
      patient. This is the first report that highlights the duplication of 719 kb at 
      7q21.3, harboring only DLX5 and DLX6 associated with the SHFM1 phenotype.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Velinov, Milen
AU  - Velinov M
AD  - New York State Institute for Basic Research in Developmental Disabilities, Staten 
      Island, New York, USA.
FAU - Ahmad, Ausaf
AU  - Ahmad A
FAU - Brown-Kipphut, Brigette
AU  - Brown-Kipphut B
FAU - Shafiq, Mustafa
AU  - Shafiq M
FAU - Blau, Jonathan
AU  - Blau J
FAU - Cooma, Ruby
AU  - Cooma R
FAU - Roth, Philip
AU  - Roth P
FAU - Iqbal, M Anwar
AU  - Iqbal MA
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20121120
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DLX5 protein, human)
RN  - 0 (DLX6 protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
RN  - Ectrodactyly
SB  - IM
MH  - *Chromosomes, Human, Pair 7
MH  - Female
MH  - *Genes, Duplicate
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Infant
MH  - Limb Deformities, Congenital/*genetics
MH  - Transcription Factors/*genetics
EDAT- 2012/11/22 06:00
MHDA- 2013/08/08 06:00
CRDT- 2012/11/22 06:00
PHST- 2012/02/07 00:00 [received]
PHST- 2012/08/08 00:00 [accepted]
PHST- 2012/11/22 06:00 [entrez]
PHST- 2012/11/22 06:00 [pubmed]
PHST- 2013/08/08 06:00 [medline]
AID - 10.1002/ajmg.a.35644 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2012 Dec;158A(12):3201-6. doi: 10.1002/ajmg.a.35644. Epub 2012 
      Nov 20.