PMID- 12510983
OWN - NLM
STAT- MEDLINE
DCOM- 20030522
LR  - 20061115
IS  - 0334-018X (Print)
IS  - 0334-018X (Linking)
VI  - 15 Suppl 5
DP  - 2002 Dec
TI  - The definition of the Y chromosome growth-control gene (GCY) critical region: 
      relevance of terminal and interstitial deletions.
PG  - 1295-300
AB  - Deletions of the long arm of the Y chromosome are often associated with short 
      stature and infertility. Initial mapping assignments to narrow down the 
      localization of the Y chromosome growth-control gene, GCY, were based on 
      molecular analysis of patients carrying a 46,XYq- karyotype as defined by classic 
      karyotyping. Two non-overlapping critical regions for GCY were defined. To 
      determine whether one or both of these regions contained GCY, adult patients with 
      monocentric Yq- chromosomes were reinvestigated in detail. Fluorescence in situ 
      hybridization (FISH) analysis showed that all patients previously defined as 
      having a pure 46,XYq- karyotype were in fact mosaics, with cells containing an 
      idic(Y) or ring(Y) chromosome in association with 45,X cells. This excluded 
      patients with terminal deletions as reliable subjects of study to locate the 
      stature gene on Yq. In contrast, detailed molecular deletion analysis of patients 
      who had interstitial deletions of the long arm of the Y chromosome pointed 
      unequivocally to a single region next to the centromere that had a possible 
      impact on growth. No functional gene has been identified in this region.
FAU - Kirsch, Stefan
AU  - Kirsch S
AD  - Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
FAU - Weiss, Birgit
AU  - Weiss B
FAU - Schon, Karin
AU  - Schon K
FAU - Rappold, Gudrun A
AU  - Rappold GA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Y
MH  - Growth/*genetics
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
EDAT- 2003/01/04 04:00
MHDA- 2003/05/23 05:00
CRDT- 2003/01/04 04:00
PHST- 2003/01/04 04:00 [pubmed]
PHST- 2003/05/23 05:00 [medline]
PHST- 2003/01/04 04:00 [entrez]
PST - ppublish
SO  - J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1295-300.