title: FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.
abstract: Deletions of the pseudoautosomal region (PAR1) of the sex chromosomes have recently been discovered in individuals with short stature, and a minimal common deletion region of 700 kb within PAR1 has subsequently been defined. We have cloned this entire region, which is bounded by the Xp/Yp telomere, as an overlapping cosmid contig. In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with short stature. Genotype-phenotype correlations have narrowed down the the critical "short stature interval" to a 270-kb region containing the gene with an important role in growth. A minimal tiling path of 6-8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic short stature.
authors.affiliation: Institut für Humangenetik, Universität Heidelberg, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Rao
authors.forename: B
authors.initials: B
authors.lastname: Weiss
authors.forename: M
authors.initials: M
authors.lastname: Fukami
authors.forename: A
authors.initials: A
authors.lastname: Mertz
authors.forename: J
authors.initials: J
authors.lastname: Meder
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: U
authors.initials: U
authors.lastname: Heinrich
authors.forename: J
authors.initials: J
authors.lastname: Garcia-Heras
authors.forename: K
authors.initials: K
authors.lastname: Schiebel
authors.forename: G A
authors.initials: GA
authors.lastname: Rappold
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*