PMID- 10590434
OWN - NLM
STAT- MEDLINE
DCOM- 20000330
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 19
IP  - 12
DP  - 1999 Dec
TI  - Molecular cytogenetic analysis and clinical findings in a newborn with prenatally 
      diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.
PG  - 1150-6
AB  - We report prenatal and early postnatal findings in a newborn with a partial 
      trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a 
      paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were 
      localized and the regions of duplication and deletion were defined by 
      fluorescence in situ hybridization (FISH) analysis using a series of 
      locus-specific and subtelomeric probes. To our knowledge, only three cases 
      involving a recombinant 7 with duplication of 7q have been reported, two of these 
      being first cousins. The clinical findings in our patient included skeletal 
      abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia 
      and short neck. These findings and some aspects of the neonatal course were 
      consistent with the phenotype previously reported for duplication of distal 7q, 
      without associated monosomy for sequences from another chromosome.
CI  - Copyright 1999 John Wiley & Sons, Ltd.
FAU - Goodman, B K
AU  - Goodman BK
AD  - Department of Gynecology and Obstetrics, Johns Hopkins University School of 
      Medicine, Baltimore, Maryland 21287-2501, USA. goodman@welchlink.welch.jhu.edu
FAU - Stone, K
AU  - Stone K
FAU - Coddett, J M
AU  - Coddett JM
FAU - Cargile, C B
AU  - Cargile CB
FAU - Gurewitsch, E D
AU  - Gurewitsch ED
FAU - Blakemore, K J
AU  - Blakemore KJ
FAU - Stetten, G
AU  - Stetten G
LA  - eng
GR  - HD24061/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging/genetics
MH  - Adult
MH  - Chromosome Aberrations/*diagnosis/diagnostic imaging
MH  - Chromosome Deletion
MH  - Chromosome Disorders
MH  - Chromosome Inversion
MH  - *Chromosomes, Human, Pair 7
MH  - Diagnosis, Differential
MH  - Female
MH  - Fetal Diseases/*diagnosis/diagnostic imaging/genetics
MH  - Gene Duplication
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Phenotype
MH  - Pregnancy
MH  - *Ultrasonography, Prenatal
RF  - 20
EDAT- 1999/12/11 09:00
MHDA- 2000/04/01 09:00
CRDT- 1999/12/11 09:00
PHST- 1999/12/11 09:00 [pubmed]
PHST- 2000/04/01 09:00 [medline]
PHST- 1999/12/11 09:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199912)19:12<1150::AID-PD733>3.0.CO;2-0 [pii]
AID - 10.1002/(sici)1097-0223(199912)19:12<1150::aid-pd733>3.0.co;2-0 [doi]
PST - ppublish
SO  - Prenat Diagn. 1999 Dec;19(12):1150-6. doi: 
      10.1002/(sici)1097-0223(199912)19:12<1150::aid-pd733>3.0.co;2-0.