PMID- 8160749
OWN - NLM
STAT- MEDLINE
DCOM- 19940519
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 50
IP  - 1
DP  - 1994 Mar 1
TI  - Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
PG  - 28-31
AB  - We report on a boy with excessively wrinkled skin, mild micro/brachycephaly with 
      mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, 
      retro/micrognathia and cleft soft palate (Pierre-Robin anomaly), patent ductus 
      arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left 
      hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of 
      fingers and knees, and equinovarus deformities of both feet. The infant had a de 
      novo dir dup(1)(pter-->q25::q12-->qter). Partial duplications involving proximal 
      1q have rarely been reported. Furthermore, this is the first case of proximal 
      duplication of chromosome 1q with unequivocal identification using fluorescence 
      in situ hybridization (FISH) with a chromosome 1 painting probe.
FAU - Chen, H
AU  - Chen H
AD  - Department of Medical Genetics, University of South Alabama, Mobile 36688.
FAU - Kusyk, C J
AU  - Kusyk CJ
FAU - Tuck-Muller, C M
AU  - Tuck-Muller CM
FAU - Martinez, J E
AU  - Martinez JE
FAU - Dorand, R D
AU  - Dorand RD
FAU - Wertelecki, W
AU  - Wertelecki W
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 Disorders
MH  - *Chromosomes, Human, Pair 1
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - *Trisomy
EDAT- 1994/03/01 00:00
MHDA- 1994/03/01 00:01
CRDT- 1994/03/01 00:00
PHST- 1994/03/01 00:00 [pubmed]
PHST- 1994/03/01 00:01 [medline]
PHST- 1994/03/01 00:00 [entrez]
AID - 10.1002/ajmg.1320500106 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Mar 1;50(1):28-31. doi: 10.1002/ajmg.1320500106.