PMID- 15690381
OWN - NLM
STAT- MEDLINE
DCOM- 20050315
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 132A
IP  - 3
DP  - 2005 Jan 30
TI  - Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
PG  - 324-8
AB  - Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder 
      characterized by the presence of multiple basal cell carcinomas (BCC), 
      odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri 
      caused by mutational inactivation of the PTCH gene. In few cases, the syndrome is 
      due to a microdeletion at 9q22. Using high-resolution chromosome analysis we have 
      identified a patient with the karyotype, 46,XY,del(9)(q21.3q31) de novo. He had 
      typical clinical features consistent with basal cell nevus syndrome, but also 
      additional features likely to be caused by loss of additional chromosomal 
      material in this region. The deletion breakpoints were characterized with 
      fluorescence in situ hybridization (FISH) analysis using BAC clones. The 15 Mb 
      long deletion includes 87 RefSeq genes including PTCH. Hemizygosity of one or 
      more genes might contribute to the additional symptoms observed in this patient.
CI  - (c) 2004 Wiley-Liss, Inc.
FAU - Boonen, S E
AU  - Boonen SE
AD  - The John F. Kennedy Institute, Glostrup, Denmark.
FAU - Stahl, D
AU  - Stahl D
FAU - Kreiborg, S
AU  - Kreiborg S
FAU - Rosenberg, T
AU  - Rosenberg T
FAU - Kalscheuer, V
AU  - Kalscheuer V
FAU - Larsen, L A
AU  - Larsen LA
FAU - Tommerup, N
AU  - Tommerup N
FAU - Brondum-Nielsen, K
AU  - Brondum-Nielsen K
FAU - Tumer, Z
AU  - Tumer Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - Basal Cell Nevus Syndrome/*genetics/pathology
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
RF  - 15
EDAT- 2005/02/04 09:00
MHDA- 2005/03/16 09:00
CRDT- 2005/02/04 09:00
PHST- 2005/02/04 09:00 [pubmed]
PHST- 2005/03/16 09:00 [medline]
PHST- 2005/02/04 09:00 [entrez]
AID - 10.1002/ajmg.a.30422 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jan 30;132A(3):324-8. doi: 10.1002/ajmg.a.30422.