Transposition of great arteries in an infant born after prenatal diagnosis of trisomy 20 mosaicism

Karaoguz M. Y., Pala E., Kula S., Karaer K., Kan D., Nas T., ...Daha Fazla

GENETIC COUNSELING, cilt.18, sa.4, ss.437-443, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2007
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.437-443
  • Anahtar Kelimeler: prenatal diagnosis, trisomy 20 mosaicism, multiple cardiac anomalies, transposition of great arteries, CONGENITAL HEART-DISEASE, MALFORMATIONS, PHENOTYPE, RISK, 20Q
  • Gazi Üniversitesi Adresli: Evet

Özet

We report a case of prenatally diagnosed mosaic trisomy 20 in cells cultured from amniotic fluid. Trisomy 20 was present in 7 cells (13 percent) in a total of 52 investigated cells. Following the normal findings of an ultrasound scan, the couple decided to continue the pregnancy. A dysmorphic infant was born at the 38 weeks of gestation with generalized dysmorphic features and multiple cardiac anomalies including transposition of great arteries. Chromosome analysis on both cord blood and placenta at birth revealed a normal 46,XX karyotype. This patient is the first case of a liveborn infant with mosaic trisomy 20 cells detected in amniotic fluid culture with transposition of great arteries, atrioventricular concordance and ventricoarterial discordance.