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Short Communication
a r t i c l e
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Article history:
Accepted 4 June 2013
Available online 17 June 2013
Keywords:
22q11.2 deletion syndrome
aCGH
Conotruncal heart malformations
Prenatal diagnosis
a b s t r a c t
We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in
a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotypephenotype correlation and the consequence of haploinsufciency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted
region. We review the literature of chromosomal loci and genes responsible for conotruncal heart
malformations and tetralogy of Fallot.
2013 Elsevier B.V. All rights reserved.
1. Introduction
Chromosome 22q11.2 deletion syndrome occurs in 1:4000
1:8000 live births (Scambler, 2000). Chromosome 22q11.2 deletion
syndrome, including DGS (OMIM 188400) and VCFS (OMIM
192430), is caused by a 1.53.0-Mb hemizygous deletion of
22q11.2 and is associated with a highly variable phenotype caused
mainly by haploinsufciency of the TBX1 gene (OMIM 602054)
406
4. Discussion
2.1. Array-CGH
407
Fig. 1. Whole-genome array comparative genomic hybridization analysis on uncultured amniocytes shows a 3.08-Mb deletion at 22q11.21 or arr [hg 19] 22q11.21 (18,656,529
21,732,904) 1]. (A) Chromosomal view and (B) zoom in view.
408
Fig. 2. Fluorescence in situ hybridization analysis using Vysis LSI DiGeorge/velocardiofacial syndrome region ARSA dual color DNA probes with a DiGeorge critical region probe at
22q11.2 (LSI DiGeorge/velocardiofacial syndrome; red spectrum) and a 22q13.3 telomeric probe (LSI ARSA; green spectrum, FITC) (Abbott Laboratories, Abbott Park, IL, USA) shows
a normal chromosome 22 (one red signal and one green signal) and a del(22) chromosome (only one green signal) in a metaphase amniocyte. The interphase amniocytes show one
red signal and two green signals.
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