PMID- 14699618
OWN - NLM
STAT- MEDLINE
DCOM- 20040728
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 124A
IP  - 2
DP  - 2004 Jan 15
TI  - Interstitial deletion 9q22.32-q33.2 associated with additional familial 
      translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and 
      features of Nail-Patella syndrome.
PG  - 179-91
AB  - The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, 
      #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a 
      few cases of interstitial deletion of chromosome 9q. We present an 11-year-old 
      girl with clinical features consistent with BCNS including bridging of sella 
      turcica, biparietal bossing, downward slanting palpebral fissures, mandible 
      prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5-S4, 
      numerous basal cell nevi, and single basal cell carcinoma. Cytogenetic analysis 
      using high-resolution banding techniques and fluorescence in situ hybridization 
      (FISH) revealed interstitial chromosome deletion 9q22.32-q33.2 involving the PTCH 
      gene as a secondary breakage event to a chromosome translocation 
      t(9;17)(q34.1;p11.2)mat. Further FISH studies showed the translocation breakpoint 
      on 9q34.11 maps proximal to ABL, between the BAC clone RP11-88G17 and the LMX1B 
      gene. The latter gene encodes a transcription factor, in which loss of function 
      mutations are responsible for the nail-patella syndrome (NPS, #161200 OMIM). 
      Interestingly, some features of our proband (e.g., bilateral patellar dysplasia 
      and abnormal clavicular shape), as well as her healthy sister who carries the 
      same translocation, are also found in patients with NPS. The chromosome 17p11.2 
      breakpoint maps in the Smith-Magenis syndrome common deletion region, within two 
      overlapping BAC clones, CTD-2354J3 and RP11-311F12.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Midro, Alina T
AU  - Midro AT
AD  - Department of Clinical Genetics, Medical University Bialystok, Poland. 
      midro@amb.edu.pl
FAU - Panasiuk, Barbara
AU  - Panasiuk B
FAU - Tumer, Zeynep
AU  - Tumer Z
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Silahtaroglu, Asli
AU  - Silahtaroglu A
FAU - Lupski, James R
AU  - Lupski JR
FAU - Zemanova, Zuzana
AU  - Zemanova Z
FAU - Stasiewicz-Jarocka, Beata
AU  - Stasiewicz-Jarocka B
FAU - Hubert, Ewa
AU  - Hubert E
FAU - Tarasow, Eugeniusz
AU  - Tarasow E
FAU - Famulski, Waldemar
AU  - Famulski W
FAU - Zadrozna-Tolwinska, Barbara
AU  - Zadrozna-Tolwinska B
FAU - Wasilewska, Ewa
AU  - Wasilewska E
FAU - Kirchhoff, Marie
AU  - Kirchhoff M
FAU - Kalscheuer, Vera
AU  - Kalscheuer V
FAU - Michalova, Kyra
AU  - Michalova K
FAU - Tommerup, Niels
AU  - Tommerup N
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  - Basal Cell Nevus Syndrome/genetics/*pathology
MH  - Child
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Family Health
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Nail-Patella Syndrome/*pathology
MH  - Pedigree
MH  - *Translocation, Genetic
RF  - 42
EDAT- 2003/12/31 05:00
MHDA- 2004/07/29 05:00
CRDT- 2003/12/31 05:00
PHST- 2003/12/31 05:00 [pubmed]
PHST- 2004/07/29 05:00 [medline]
PHST- 2003/12/31 05:00 [entrez]
AID - 10.1002/ajmg.a.20367 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Jan 15;124A(2):179-91. doi: 10.1002/ajmg.a.20367.