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Med J Bakirkoy. 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



Multipl konjenital anomali ve de novo t (3; 4) (p13; p14) translokasyonu: Olgu sunumu

Özet
Yenidoğan dönemindeki konjenital malformasyonların önemli bir yüzdesini kromozomal anomaliler oluşturur. Bu yazıda dismorfik bulgularla
kistik higroma birlikteliği olan, bilinen bir dismorfik sendromla açıklanamayan, bir erkek yenidoğan sunulmaktadır. Hastanın sitogenetik
analizinde karyotipi 46, XY, t (3; 4) (p13; p14) olarak saptanmıştır. Kromozom analizi sonucu prognoz belirlenebilir, etkilenen çocuğun
ebeveynlerinin ve diğer akrabalarının sonraki gebeliklerine ait muhtemel risk de tanımlanabilir.

Anahtar Kelimeler: Multipl konjenital anomali, sitogenetik analiz, translokasyon



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