PMID- 7977471
OWN - NLM
STAT- MEDLINE
DCOM- 19941129
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 52
IP  - 1
DP  - 1994 Aug 1
TI  - FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe 
      trigonocephaly (C) phenotype.
PG  - 92-6
AB  - An infant girl with manifestations resembling Optiz trigonocephaly (C) syndrome 
      who died at age 6 days was found to have a complex chromosome abnormality with 
      t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments 
      of 13q. Precise characterization was possible with the application of 
      fluorescence in situ hybridization (FISH) using chromosome specific probes. The 
      patient's phenotype is compared to that of other syndromes involving 
      trigonocephaly.
FAU - Chu, T W
AU  - Chu TW
AD  - Department of Genetics, Yale University School of Medicine, New Haven, 
      Connecticut 06510.
FAU - Teebi, A S
AU  - Teebi AS
FAU - Gibson, L
AU  - Gibson L
FAU - Breg, W R
AU  - Breg WR
FAU - Yang-Feng, T L
AU  - Yang-Feng TL
LA  - eng
GR  - GM07439/GM/NIGMS 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  - Abnormalities, Multiple/*genetics
MH  - *Aneuploidy
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 13
MH  - Female
MH  - Hand Deformities, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Phenotype
MH  - Skull/*abnormalities
MH  - Trisomy/*genetics
EDAT- 1994/08/01 00:00
MHDA- 1994/08/01 00:01
CRDT- 1994/08/01 00:00
PHST- 1994/08/01 00:00 [pubmed]
PHST- 1994/08/01 00:01 [medline]
PHST- 1994/08/01 00:00 [entrez]
AID - 10.1002/ajmg.1320520118 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Aug 1;52(1):92-6. doi: 10.1002/ajmg.1320520118.