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  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

Midro, A. T., Panasiuk, B., Tümer, Z., Stankiewicz, P., Silahtaroglu, A., Lupski, J. R., et al. (2004). 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. American Journal of Medical Genetics Part A, 135A(3), 179-191. doi:10.1002/ajmg.a.20367.

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Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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 Creators:
Midro, Alina T., Author
Panasiuk, Barbara, Author
Tümer, Zeynep, Author
Stankiewicz, Pawel, Author
Silahtaroglu, Asli, Author
Lupski, James R., Author
Zemanova, Zuzana, Author
Stasiewicz-Jarocka, Beata, Author
Hubert, Ewa, Author
Tarasów, Eugeniusz, Author
Famulski, Waldemar, Author
Zadrona-Tolwinska, Barbara, Author
Wasilewska, Ewa, Author
Kirchhoff, Marie, Author
Kalscheuer, Vera M.1, Author           
Michalova, Kyra, Author
Tommerup, Niels, Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: BCNS • chromosome translocation t(9;17)(q34.1;p11.2) • FISH • Gorlin-Goltz syndrome • interstitial deletion 9q • LMX1B • nail-patella syndrome • PTCH gene • Smith-Magenis syndrome common deletion region
 Abstract: 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.

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Language(s): eng - English
 Dates: 2004-01-15
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 225116
DOI: 10.1002/ajmg.a.20367
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am. J. Med. Genet.
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 135A (3) Sequence Number: - Start / End Page: 179 - 191 Identifier: ISSN: 1552-4825