PMID- 12239730
OWN - NLM
STAT- MEDLINE
DCOM- 20030304
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 112
IP  - 1
DP  - 2002 Sep 15
TI  - Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism.
PG  - 99-102
AB  - This report describes a patient who had some phenotypic features of Down syndrome 
      (DS) as well as severe conotruncal cardiac anomalies, including pulmonary atresia 
      with ventricular septal defect (tetralogy of Fallot with pulmonary atresia), 
      confluent pulmonary arteries, a large left-sided ductus arteriosus, left aortic 
      arch, aberrant right subclavian artery, and secundum atrial septal defect. 
      Cytogenetic and fluorescence in situ hybridization (FISH) analysis was carried 
      out on peripheral blood lymphocytes and skin fibroblasts using probes specific 
      for the chromosomal loci 21q22.13 to 21q22.2 and locus 22q11.2. This revealed 
      47,XX+21/46,XX mosaicism at a rate of 15:85 and the micro-deletion 22q11.2 
      (del22q11.2). Some patients'congenital cardiac anomalies are atypical for the 
      type of mosaicism or aneuploidy. The case suggests that association of del22q11.2 
      should be considered in patients with chromosomal mosaicism or aneuploidy who 
      also have particular conotruncal cardiac defects.
FAU - Derbent, Murat
AU  - Derbent M
AD  - Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey. 
      muratder@superonline.com
FAU - Saygili, Arda
AU  - Saygili A
FAU - Yilmaz, Zerrin
AU  - Yilmaz Z
FAU - Kervancioglu, Mehmet
AU  - Kervancioglu M
FAU - Balci, Sevim
AU  - Balci S
FAU - Tokel, Kursat
AU  - Tokel K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - *Chromosomes, Human, Pair 22
MH  - *Down Syndrome
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - *Mosaicism
EDAT- 2002/09/20 10:00
MHDA- 2003/03/05 04:00
CRDT- 2002/09/20 10:00
PHST- 2002/09/20 10:00 [pubmed]
PHST- 2003/03/05 04:00 [medline]
PHST- 2002/09/20 10:00 [entrez]
AID - 10.1002/ajmg.10545 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Sep 15;112(1):99-102. doi: 10.1002/ajmg.10545.