PMID- 8172253
OWN - NLM
STAT- MEDLINE
DCOM- 19940527
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 49
IP  - 1
DP  - 1994 Jan 1
TI  - Two patients with overlapping de novo duplications of the long arm of chromosome 
      9, including one case with Di George sequence.
PG  - 67-73
AB  - Duplications of chromosome 9q are rare. We describe the cytogenetic and 
      phenotypic findings in 2 patients, one with a large duplication covering most of 
      9q(q12-q33.2) and one with a smaller duplication (q21.12-q22.1) who had Di George 
      sequence (DGS). The chromosome 9 origin of the extra material in the second case 
      was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole 
      chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have 
      been reported in CHARGE association. This is the first report of an association 
      of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 
      abnormality and the seventh report of a patient with a duplication of a large 
      portion of 9q (q11-q13 to q32-q33).
FAU - Lindgren, V
AU  - Lindgren V
AD  - Department of Obstetrics and Gynecology, University of Chicago, Illinois 60637.
FAU - Rosinsky, B
AU  - Rosinsky B
FAU - Chin, J
AU  - Chin J
FAU - Berry-Kravis, E
AU  - Berry-Kravis E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Brain/*abnormalities
MH  - Chromosome Aberrations/*genetics/pathology
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 9/*ultrastructure
MH  - Congenital Hypothyroidism
MH  - DiGeorge Syndrome/*genetics
MH  - Face/*abnormalities
MH  - Fatal Outcome
MH  - Female
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - Hypothyroidism/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - *Multigene Family
MH  - Optic Disk/abnormalities
MH  - Palate/abnormalities
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
AID - 10.1002/ajmg.1320490112 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Jan 1;49(1):67-73. doi: 10.1002/ajmg.1320490112.