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Case Report

BTDMJB. 2007; 3(1): 37-39


Multiple congenital abnormalities and de novo t (3; 4) (p13; p14) translocation: Case report

Abdülkadir Bozaykut, Lale Pulat Seren, İlke İpek, Gönül Sezer, Nilüfer Tunç.

Abstract
Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. Here we report a male
newborn that had cystic hygroma associated with dysmorphic features which were not accounted for a clinically recognizable dysmorphic
syndrome. Cytogenetic analysis revealed a karyotype of 46, XY, t (3; 4) (p13; p14) translocation.
Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used
to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.

Key words: Multiple congenital abnormalities, cytogenetic analysis, translocation



Article Language: Turkish English



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