PMID- 19243411
OWN - NLM
STAT- MEDLINE
DCOM- 20090428
LR  - 20111117
IS  - 0914-3505 (Print)
IS  - 0914-3505 (Linking)
VI  - 49
IP  - 1
DP  - 2009 Mar
TI  - Further delineation of 9q22 deletion syndrome associated with basal cell nevus 
      (Gorlin) syndrome: report of two cases and review of the literature.
PG  - 8-14
LID - 10.1111/j.1741-4520.2008.00212.x [doi]
AB  - Basal cell nevus syndrome (BCNS; Gorlin syndrome) is an autosomal dominant 
      disorder, characterized by a predisposition to neoplasms and developmental 
      abnormalities. BCNS is caused by mutations in the human homolog of the Drosophila 
      patched gene-1, PTCH1, which is mapped on chromosome 9q22.3. Nonsense, 
      frameshift, in-frame deletions, splice-site, and missense mutations have been 
      found in the syndrome. Haploinsufficiency of PTCH1, which is caused by 
      interstitial deletion of 9q22.3, is also responsible for the syndrome. To date, 
      19 cases with interstitial deletion of long arm of chromosome 9 involving the 
      region of q22 have been reported. We describe two unrelated patients with some 
      typical features of BCNS associated with deletion of 9q21.33-q31.1 and determined 
      the boundary of the deletion by fluorescence in situ hybridization (FISH) with 
      bacterial artificial chromosome (BAC) clones. The results showed that the size of 
      deletions is between 15.33 and 16.04 Mb in patient 1 and between 18.08 and 18.54 
      Mb in patient 2. Although the size and breakpoints were different from those of 
      previously reported cases, the clinical features are common to patients with 9q22 
      deletion associated with BCNS. Delineation of the 9q22 deletions and further 
      consideration of the genes responsible for the characteristic manifestations may 
      provide insight into this newly recognized deletion syndrome.
FAU - Yamamoto, Kayono
AU  - Yamamoto K
AD  - Department of Genetic Counseling, Graduate School of Humanities and Sciences, 
      Ochanomizu University, Tokyo, Japan.
FAU - Yoshihashi, Hiroshi
AU  - Yoshihashi H
FAU - Furuya, Noritaka
AU  - Furuya N
FAU - Adachi, Masanori
AU  - Adachi M
FAU - Ito, Susumu
AU  - Ito S
FAU - Tanaka, Yukichi
AU  - Tanaka Y
FAU - Masuno, Mitsuo
AU  - Masuno M
FAU - Chiyo, Hideaki
AU  - Chiyo H
FAU - Kurosawa, Kenji
AU  - Kurosawa K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - Congenit Anom (Kyoto)
JT  - Congenital anomalies
JID - 9306292
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - Basal Cell Nevus Syndrome/*genetics/pathology
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Developmental Disabilities/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Syndrome
MH  - Tomography, X-Ray Computed
EDAT- 2009/02/27 09:00
MHDA- 2009/04/29 09:00
CRDT- 2009/02/27 09:00
PHST- 2009/02/27 09:00 [entrez]
PHST- 2009/02/27 09:00 [pubmed]
PHST- 2009/04/29 09:00 [medline]
AID - CGA212 [pii]
AID - 10.1111/j.1741-4520.2008.00212.x [doi]
PST - ppublish
SO  - Congenit Anom (Kyoto). 2009 Mar;49(1):8-14. doi: 
      10.1111/j.1741-4520.2008.00212.x.