PMID- 16323556
OWN - NLM
STAT- MEDLINE
DCOM- 20051222
LR  - 20101118
IS  - 2072-0939 (Print)
IS  - 2072-0939 (Linking)
VI  - 28
IP  - 9
DP  - 2005 Sep
TI  - Detection of gene deletions in children with chondrodysplasia punctata, 
      ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
PG  - 643-50
AB  - BACKGROUND: Contiguous gene syndrome (CGS) is characterized by a series of 
      clinical features resulting from interstitial or terminal deletions of various 
      adjacent genes. Several important genes have been identified in the Xp22.3 region 
      to be responsible for genetically heterogeneous diseases. In this study, 
      fluorescence in situ hybridization (FISH) methods were used to detect the extent 
      of gene deletion related to the phenotypes of patients with Xp-CGS. METHODS: The 
      molecular cytogenetic statuses of 23 boys with at least 1 apparent feature of 
      chondrodysplasia punctata (CDP), ichthyosis, Kallmann syndrome, or type 1 ocular 
      albinism and those of their family members were investigated. High-resolution 
      banding and FISH studies were performed using the probes of steroid sulfatase 
      (STS), KAL1 and OA1, to detect the deleted status on Xp22.3 in these patients 
      along with their mothers and/or sisters or maternal grandmothers. RESULTS: All of 
      these boys had normal karyotypes. FISH study showed nullisomy in 9 of the 23 male 
      patients and hemizygosity in all female carriers in the genes on Xp22.3. The 
      existence of 2 or more diseases in the same individual indicates a CGS. In 
      addition, a putative mental retardation-related gene on Xp22.3 locus was 
      considered to be located between X-linked CDP and STS. CONCLUSIONS: The use of 
      FISH probes for the Xp22.3 region allowed us to identify X-linked CGSs, 
      especially in those patients with 2 or more distinct clinical entities or an 
      obvious X-linked disorder.
FAU - Hou, Jia-Woei
AU  - Hou JW
AD  - Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's 
      Hospital, Taoyuan, Taiwan, ROC. houjw741@cgmh.org.tw
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Chang Gung Med J
JT  - Chang Gung medical journal
JID - 101088034
SB  - IM
MH  - Albinism, Ocular/*genetics
MH  - Child
MH  - Chondrodysplasia Punctata/*genetics
MH  - Chromosomes, Human, X
MH  - Female
MH  - *Gene Deletion
MH  - Genetic Linkage
MH  - Humans
MH  - Ichthyosis/*genetics
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Kallmann Syndrome/*genetics
MH  - Male
EDAT- 2005/12/06 09:00
MHDA- 2005/12/24 09:00
CRDT- 2005/12/06 09:00
PHST- 2005/12/06 09:00 [pubmed]
PHST- 2005/12/24 09:00 [medline]
PHST- 2005/12/06 09:00 [entrez]
AID - 2809/280907 [pii]
PST - ppublish
SO  - Chang Gung Med J. 2005 Sep;28(9):643-50.