PMID- 14616763
OWN - NLM
STAT- MEDLINE
DCOM- 20040622
LR  - 20220408
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 64
IP  - 5
DP  - 2003 Nov
TI  - Omphalocele in trisomy 3q: further delineation of phenotype.
PG  - 404-13
AB  - We report a case of a patient with omphalocele, dysmorphic features, and mild 
      developmental delay associated with a chromosomal aberration. Chromosome studies 
      showed that the propositus carries a maternally derived unbalanced translocation 
      der(4)t(3;4)(q27.3;q32.3), resulting in trisomy for region 3q27.3-->qter and 
      monosomy for 4q32.3-->qter. Because the association between dup3q and omphalocele 
      has been reported in several cases, we analyzed the data on 93 previously 
      reported patients with partial trisomy of the long arm of chromosome 3 and 
      compared the clinical features between the cases. The imbalance of chromosome 3 
      in the patient was further defined by fluorescence in situ hybridization (FISH) 
      studies using bacterial artificial chromosome (BAC) clones. BAC clone RP11-171N2 
      was identified as a breakpoint-spanning clone in the patient and his mother. 
      Based on our comparative analysis, we have delineated that the smallest region of 
      overlap (SRO) associated with omphalocele is from BAC 171N2 to 3qter. We 
      hypothesize that the SRO contains a gene(s) important in normal abdominal wall 
      development and is of potential interest for further investigation.
FAU - Yatsenko, S A
AU  - Yatsenko SA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Mendoza-Londono, R
AU  - Mendoza-Londono R
FAU - Belmont, J W
AU  - Belmont JW
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - *Chromosomes, Human, Pair 3
MH  - Developmental Disabilities/genetics
MH  - Face/abnormalities
MH  - Hernia, Umbilical/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Translocation, Genetic
MH  - *Trisomy
EDAT- 2003/11/18 05:00
MHDA- 2004/06/23 05:00
CRDT- 2003/11/18 05:00
PHST- 2003/11/18 05:00 [pubmed]
PHST- 2004/06/23 05:00 [medline]
PHST- 2003/11/18 05:00 [entrez]
AID - 159 [pii]
AID - 10.1034/j.1399-0004.2003.00159.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 Nov;64(5):404-13. doi: 10.1034/j.1399-0004.2003.00159.x.