PMID- 9254856
OWN - NLM
STAT- MEDLINE
DCOM- 19970908
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 100
IP  - 2
DP  - 1997 Aug
TI  - FISH-deletion mapping defines a 270-kb short stature critical interval in the 
      pseudoautosomal region PAR1 on human sex chromosomes.
PG  - 236-9
AB  - 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.
FAU - Rao, E
AU  - Rao E
AD  - Institut fur Humangenetik, Universitat Heidelberg, Germany.
FAU - Weiss, B
AU  - Weiss B
FAU - Fukami, M
AU  - Fukami M
FAU - Mertz, A
AU  - Mertz A
FAU - Meder, J
AU  - Meder J
FAU - Ogata, T
AU  - Ogata T
FAU - Heinrich, U
AU  - Heinrich U
FAU - Garcia-Heras, J
AU  - Garcia-Heras J
FAU - Schiebel, K
AU  - Schiebel K
FAU - Rappold, G A
AU  - Rappold GA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Adolescent
MH  - Body Height/*genetics
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Breakage
MH  - Chromosome Mapping
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Sequence Deletion
MH  - X Chromosome/*genetics
EDAT- 1997/08/01 00:00
MHDA- 1997/08/01 00:01
CRDT- 1997/08/01 00:00
PHST- 1997/08/01 00:00 [pubmed]
PHST- 1997/08/01 00:01 [medline]
PHST- 1997/08/01 00:00 [entrez]
AID - 10.1007/s004390050497 [doi]
PST - ppublish
SO  - Hum Genet. 1997 Aug;100(2):236-9. doi: 10.1007/s004390050497.