title: Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
abstract: The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations. One patient [46,XY,t(1;9)(q32.1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17)(q34.1;q25)] was reported previously. D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs. Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by haploinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints.
authors: Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
authors: A
authors: A
authors: Silahtaroglu
authors: F A
authors: FA
authors: Hol
authors: P K
authors: PK
authors: Jensen
authors: M
authors: M
authors: Erdel
authors: H C
authors: HC
authors: Duba
authors: M P
authors: MP
authors: Geurds
authors: N V
authors: NV
authors: Knoers
authors: E C
authors: EC
authors: Mariman
authors: Z
authors: Z
authors: Tümer
authors: G
authors: G
authors: Utermann
authors: J
authors: J
authors: Wirth
authors: M
authors: M
authors: Bugge
authors: N
authors: N
authors: Tommerup
mesh_terms: D002873:Chromosome Fragility; D018244:Chromosomes, Artificial, Yeast; D002899:Chromosomes, Human, Pair 9; D003001:Cloning, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009261:Nail-Patella Syndrome / Q000235:genetics*; D014178:Translocation, Genetic