PMID- 1442891
OWN - NLM
STAT- MEDLINE
DCOM- 19921214
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 44
IP  - 4
DP  - 1992 Nov 1
TI  - Confirmation of a cryptic unbalanced translocation using whole chromosome 
      fluorescence in situ hybridization.
PG  - 477-81
AB  - We report on a 7-year-old boy with minor anomalies, growth retardation, and 
      developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome 
      constitution. To determine the origin of the additional chromosome segment, 
      several candidate regions were identified including 4q and 18q. Clinical 
      comparison showed more similarities to individuals with partial dup(4q) than to 
      those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) 
      was used to demonstrate the correct origin of the translocated region, clarifying 
      the karyotype as 46,XY,der(18)t(4;18)(q28.2;q22.2), thus generating information 
      of clinical importance. This illustrates the use of whole chromosome FISH to 
      identify chromosome regions that cannot be determined conclusively using standard 
      cytogenetic banding techniques.
FAU - Mewar, R
AU  - Mewar R
AD  - Department of Biochemistry and Molecular Biology, Thomas Jefferson University, 
      Philadelphia, PA 19107.
FAU - Kline, A D
AU  - Kline AD
FAU - Jackson, L
AU  - Jackson L
FAU - Overhauser, J
AU  - Overhauser J
LA  - eng
GR  - HG00167/HG/NHGRI NIH HHS/United States
PT  - Case Reports
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  - Child
MH  - Chromosome Aberrations/*genetics/physiopathology
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 4
MH  - Humans
MH  - *In Situ Hybridization
MH  - Male
MH  - Microscopy, Fluorescence
MH  - Multigene Family
MH  - Translocation, Genetic/*genetics
EDAT- 1992/11/01 00:00
MHDA- 1992/11/01 00:01
CRDT- 1992/11/01 00:00
PHST- 1992/11/01 00:00 [pubmed]
PHST- 1992/11/01 00:01 [medline]
PHST- 1992/11/01 00:00 [entrez]
AID - 10.1002/ajmg.1320440418 [doi]
PST - ppublish
SO  - Am J Med Genet. 1992 Nov 1;44(4):477-81. doi: 10.1002/ajmg.1320440418.