PARTIAL TRISOMY 14q DUE TO MATERNAL t(4;14)(p16;q32) IN A DYSMORPHIC NEWBORN


Dundar M. , Uzak A., SAATÇİ Ç. , AKALIN H.

GENETIC COUNSELING, cilt.22, ss.287-292, 2011 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 22 Konu: 3
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.287-292

Özet

Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn: Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of these cytogenetic studies and the physical examination, this dysmorphic case was diagnosed as partial trisomy of 14q and his karyotype determined as 46 XY, der(4)t(4;14)(p16;q32) resulting from a balanced maternal translocation identified as 46,XX, t(4;14)(p16;q32).