MULTIPLE CONGENITAL ANOMALIES IN A CHILD WITH 47,XY,+der(8;9)(p10;p10): A CASE REPORT

Gorukmez O., Gorukmez O., Sag S. O., Yakut T., Gulten T.

GENETIC COUNSELING, vol.26, no.2, pp.163-169, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 2
  • Publication Date: 2015
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.163-169
  • Bursa Uludag University Affiliated: Yes

Abstract

Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): a case report: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome. We report a complex sSMC derived from chromosomes 9 and 8, characterized as der(8;9)(p10;p10) resulting from unbalanced transition of maternal balanced translocation. Besides dysmorphic face and mental-motor retardation, the patient had Dandy-Walker malformation (DWM) in cranial MR also. As far as we are concerned, this is the first complex sSMC case comprising short arms of 8th and 9th chromosomes.