PMID- 8456860
OWN - NLM
STAT- MEDLINE
DCOM- 19930422
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 45
IP  - 6
DP  - 1993 Mar 15
TI  - Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).
PG  - 770-3
AB  - We describe a girl with some manifestations of the dup (9p) syndrome. 
      High-resolution Giemsa-banded karyotype of her lymphocytes documented that she 
      was mosaic with 80% of cells being 46,XX, and 20% 46,XX,-20, + der(20;?) (p13;?). 
      The additional material on 20p could not be defined clearly by high-resolution 
      Giemsa banding, as the banding pattern appeared consistent with either distal 9p 
      or distal 13q. In order to make a definitive cytogenetic diagnosis, we used 
      fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA 
      library to establish that the origin of the additional chromosomal material on 
      chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the 
      family specifically regarding the prognosis and manifestations of distal 9p 
      duplication.
FAU - Petty, E M
AU  - Petty EM
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
FAU - Gibson, L H
AU  - Gibson LH
FAU - Breg, W R
AU  - Breg WR
FAU - Burns, J P
AU  - Burns JP
FAU - Yang-Feng, T L
AU  - Yang-Feng TL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 9
MH  - Facial Bones/abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - *Mosaicism
MH  - Musculoskeletal Abnormalities
MH  - Phenotype
MH  - Skull/abnormalities
MH  - Syndrome
EDAT- 1993/03/15 00:00
MHDA- 1993/03/15 00:01
CRDT- 1993/03/15 00:00
PHST- 1993/03/15 00:00 [pubmed]
PHST- 1993/03/15 00:01 [medline]
PHST- 1993/03/15 00:00 [entrez]
AID - 10.1002/ajmg.1320450622 [doi]
PST - ppublish
SO  - Am J Med Genet. 1993 Mar 15;45(6):770-3. doi: 10.1002/ajmg.1320450622.