PARTIAL TRISOMIES OF 8q AND 15q DUE TO MATERNAL BALANCED TRANSLOCATIONS

Ozdemir M., Yuksel Z., Karaer K., Tekin N., Kucuk H., Erzurumluoglu E., ...Daha Fazla

GENETIC COUNSELING, cilt.23, sa.3, ss.375-382, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 3
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.375-382
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Partial trisomies of 8q and 15q due to maternal balanced translocations: Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial features (inc. cleft lip/palate), behavioural disturbances and growth retardation, who had partial 8q trisomy and partial 21p monosomy resulting from a maternal t(8;21) reciprocal translocation. The other case is a 2 day-old boy with ventriculomegaly, dysmorphic facial features and heart defects (patent ductus arteriosus and atrial septal defect) who had partial 15q trisomy and partial 9p monosomy resulting from a maternal t(9;15) reciprocal translocation.