DOUBLE PARTIAL TRISOMY OF 6p23-pter AND 9pter-q21.2 IN A NEONATE RESULTING FROM 4:2 MEIOTIC SEGREGATION OF A MATERNAL COMPLEX t(6;7;9)(p23;p15;q21.2) TRANSLOCATION

CETIN Z., MIHÇI E., KESER İ., KARAALİ K., BERKER S., LULECI G.

GENETIC COUNSELING, cilt.23, sa.2, ss.239-247, 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.239-247
  • Anahtar Kelimeler: Complex chromosomal rearrangement, 4:2 segregation, Trisomy 9pter -> q21.2, Trisomy 6p23 -> pter, IN-SITU HYBRIDIZATION, CHROMOSOMAL REARRANGEMENT, 9P, PATIENT, FLUORESCENCE, BREAKPOINTS, ABERRATIONS, DIAGNOSIS, ORIGIN, CHILD
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation: We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter -> p23::p15 -> qter),+der(9)t(7,9)(pter -> p15::q21.2 -> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.