TERTIARY TRISOMY OF 10p15-pter AND 14pter-q13 DUE TO MATERNAL TRANSLOCATION t(10;14)(p15;q13)

CETIN Z., MIHÇI E., KESER İ., LULECI G.

GENETIC COUNSELING, cilt.23, sa.2, ss.207-214, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.207-214
  • Anahtar Kelimeler: Tertiary trisomy 10q, Tertiary trisomy 14q, IN-SITU HYBRIDIZATION, RECIPROCAL TRANSLOCATIONS, BALANCED TRANSLOCATION, MEIOTIC SEGREGATION, 14Q, CARRIERS, CHROMOSOMES, DISJUNCTION, SPERMATOZOA
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Tertiary trisomy of 10p15-pter and 14pter-q13 due to maternal translocation t(10;14)(p15;q13): Double partial trisomy resulting from 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. We present here a first patient with multiple congenital malformations associated with double partial trisomy of 10pter-p15 and 14pter-q13 resulting from 3:1 segregation of maternal balanced translocation t(10;14)(p15;q13). Proximal partial trisomy of chromosome 14 and subterminal trisomy of the short arm of the chromosome 10 are rare. The present case is the first case with double partial trisomy of these segments resulting from 3:1 segregation of a maternal balanced translocation.