A case of Deletion of Chromosome 4p / 대한산부인과학회잡지

ABSTRACT

We have known that deletion of chromosomal 4p resulted Wolf-Hirschhorn syndrome. Wolf-Hirschhorn syndrome, first described in 1965 by Wolf et al and Hirschhorn et al, is defined multiple congenital anomalies and mental retardation syndrome resulting from deletion involving chromosomal band 4p. The main features of this syndrome are microcephaly, frontal bossing, dolycocephaly, hypoplasia of the eye socket, ptosis, strabismus, nystagmus, bilateral epicanthic folds, cleft lip, palate, beaked nose, hypospadias, cardiac malformations and mental retardation (IQ 20-30). As we experience a case of deletion of chromosome 4p by doing cytogenetic study due to abscence of fetal stomach on sonography and increased fetal nuchal folds, we report our case with a literature review.