PMID- 20420025
OWN - NLM
STAT- MEDLINE
DCOM- 20100514
LR  - 20111117
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 21
IP  - 1
DP  - 2010
TI  - Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome 
      variant with brain anomalies.
PG  - 19-24
AB  - We report a case of partial trisomy 22q with de novo duplication of chromosomal 
      region 22q11.1-22q13.1, also confirmed by microarray comparative genomic 
      hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and 
      corpus callosum agenesis diagnosed by MRI which has not been reported in the 
      literature. This novel phenotype differs from the reported cat eye syndromes by 
      the absence of heart defects and the presence of brain anomalies.
FAU - Karcaaltincaba, D
AU  - Karcaaltincaba D
AD  - Department of Obstetrics and Gynecology, Etlik Zubeyde Hanim Women's Hospital, 
      Ankara, Turkey.
FAU - Ceylaner, S
AU  - Ceylaner S
FAU - Ceylaner, G
AU  - Ceylaner G
FAU - Dalkilic, S
AU  - Dalkilic S
FAU - Karli-Oguz, K
AU  - Karli-Oguz K
FAU - Kandemir, O
AU  - Kandemir O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Agenesis of Corpus Callosum
MH  - Arachnoid Cysts
MH  - Brain/*abnormalities
MH  - *Chromosomes, Human, Pair 22
MH  - Comparative Genomic Hybridization
MH  - Eye Abnormalities/diagnosis/*genetics
MH  - Fatal Outcome
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - Infant, Newborn
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Syndrome
MH  - Trisomy/diagnosis/*genetics
EDAT- 2010/04/28 06:00
MHDA- 2010/05/15 06:00
CRDT- 2010/04/28 06:00
PHST- 2010/04/28 06:00 [entrez]
PHST- 2010/04/28 06:00 [pubmed]
PHST- 2010/05/15 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2010;21(1):19-24.