PMID- 8585568
OWN - NLM
STAT- MEDLINE
DCOM- 19960319
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 59
IP  - 4
DP  - 1995 Dec 4
TI  - Analysis of clinical variation seen in patients with 18q terminal deletions.
PG  - 476-83
AB  - Twenty-six patients with deletions of 18q were analyzed at the clinical and 
      molecular levels in an attempt to delineate regions of chromosome 18 important to 
      the 18q- syndrome phenotype. Molecular cytogenetic analysis was carried out using 
      fluorescence in situ hybridization (FISH), and deletions ranging from 
      18q21.1-qter to 18q22.3-qter were detected. The parental origin of the deletions 
      was determined by the analysis of inheritance of microsatellite markers. No 
      correlation between size, parental origin, or severity of the resulting phenotype 
      was found. The results suggest that a critical region for 18q- syndrome lies in 
      the most distal portion of 18q and that it confers susceptibility for the various 
      clinical manifestations of the 18q- syndrome when present in one copy.
FAU - Strathdee, G
AU  - Strathdee G
AD  - Department of Biochemistry and Molecular Biology, Thomas Jefferson University, 
      Philadelphia, PA 19107, USA.
FAU - Zackai, E H
AU  - Zackai EH
FAU - Shapiro, R
AU  - Shapiro R
FAU - Kamholz, J
AU  - Kamholz J
FAU - Overhauser, J
AU  - Overhauser J
LA  - eng
GR  - HG0167/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 18
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Phenotype
MH  - Syndrome
EDAT- 1995/12/04 00:00
MHDA- 1995/12/04 00:01
CRDT- 1995/12/04 00:00
PHST- 1995/12/04 00:00 [pubmed]
PHST- 1995/12/04 00:01 [medline]
PHST- 1995/12/04 00:00 [entrez]
AID - 10.1002/ajmg.1320590414 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Dec 4;59(4):476-83. doi: 10.1002/ajmg.1320590414.