PMID- 22847911
OWN - NLM
STAT- MEDLINE
DCOM- 20121109
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 158A
IP  - 9
DP  - 2012 Sep
TI  - Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with 
      diaphragmatic hernia as a sole malformation in a fetus.
PG  - 2302-8
LID - 10.1002/ajmg.a.35505 [doi]
AB  - Partial duplications and deletions of chromosome 13 are rare and the phenotypic 
      expressions of both aneuploidies are highly variable. Here we report on a fetus 
      diagnosed prenatally with partial trisomy of 13q and a diaphragmatic hernia as a 
      sole malformation. The parents had decided to terminate the pregnancy after the 
      finding of diaphragmatic hernia by ultrasound scan, which was also confirmed by 
      autopsy of the fetus. Subsequently chromosome analysis, fluorescence in situ 
      hybridization (FISH), and array comparative genomic hybridization (array CGH) was 
      carried out on fetal tissue. The chromosome analysis revealed additional material 
      on chromosome 13, which was shown to be from the same chromosome, by FISH 
      analysis. Array CGH demonstrated a partial duplication and a small deletion at 
      the distal long arm of chromosome 13. The parents had normal karyotypes. This is 
      the first case of a de novo pure partial duplication of 13q31.3-q34 and distal 
      deletion of 13q34 with a phenotype apparently only involving a diaphragmatic 
      hernia and three lung lobes on both sides. Microarray analysis was useful in 
      refining the chromosomal imbalance and suggesting a candidate region for 
      diaphragmatic hernia.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Jonch, Aia E
AU  - Jonch AE
AD  - Kennedy Center, Genetic Counseling Clinic, Glostrup, Denmark. aia@kennedy.dk
FAU - Larsen, Lise G
AU  - Larsen LG
FAU - Pouplier, Susanne
AU  - Pouplier S
FAU - Nielsen, Kate
AU  - Nielsen K
FAU - Brondum-Nielsen, Karen
AU  - Brondum-Nielsen K
FAU - Tumer, Zeynep
AU  - Tumer Z
LA  - eng
PT  - Journal Article
DEP - 20120727
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 13
MH  - Comparative Genomic Hybridization
MH  - Fetus/*abnormalities
MH  - *Gene Duplication
MH  - Hernia, Diaphragmatic/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
EDAT- 2012/08/01 06:00
MHDA- 2012/11/10 06:00
CRDT- 2012/08/01 06:00
PHST- 2011/09/25 00:00 [received]
PHST- 2012/05/06 00:00 [accepted]
PHST- 2012/08/01 06:00 [entrez]
PHST- 2012/08/01 06:00 [pubmed]
PHST- 2012/11/10 06:00 [medline]
AID - 10.1002/ajmg.a.35505 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2012 Sep;158A(9):2302-8. doi: 10.1002/ajmg.a.35505. Epub 2012 
      Jul 27.