A CASE OF WOLF-HIRSCHHORN SYNDROME PRENATAL DIAGNOSED

GÜLER ATEŞER, LEMİ İBRAHİMOĞLU, MUHTEREM BAHÇE, FİGEN AKSOY

Gynecology Obstetrics & Reproductive Medicine - 2004;10(1):57-59

İstanbul-Turkey

 

We report a case with 4p- syndrome that was diagnosed prenatally. Whose mother has cleft lip and father's aunt has had a mentally retarded child. Ultrasonography had been ordered because of these features. Lateral cleft lip and cleft palate, enlargment of posterior horn of lateral ventricle and posterior fossa, agenesis inferior vermis (Dandy-Walker variant), unilateral enlargement of pelvis renalis were detected. Cordosentesis was performed. Chromosome analysis revealed a 46 XY, del (4)(p15.3) karyotype. The mother's karyotype was normal but the father had a translocation, 46 XY, t(4;7) (p15; q36). This is a case Wolf-Hirschhorn syndrome with paternal origine hence the pregnancy was terminated.