A case of Deletion of Chromosome 4p.

Lee, Sang Eun; Kim, Jong Seok; Kim, Myung Chan; Lee, Dae Woo; Lee, Yoon Ho; Lee, Mi Sook; Lee, Seung Cheol

Case Report

Korean Journal of Obstetrics & Gynecology 2002;45(12):2303-2306.
Published online December 1, 2002.

A case of Deletion of Chromosome 4p.

Sang Eun Lee, Jong Seok Kim, Myung Chan Kim, Dae Woo Lee, Yoon Ho Lee, Mi Sook Lee, Seung Cheol Lee

¹Department of Obstetrics and Gynecology, Yonsei University, College of Medicine, Seoul, Korea.
²Department of Obstetrics and Gynecology, Andong Women's Hospital, Andong, Korea.
³Ehwa Obstetrics and Gynecology Clinic, Andong, Korea.
⁴Department of Anatomical Pathology, Andong Hospital, Andong, Korea.

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.

Key Words: Sonographic nonvisualization of fetal stomach, Increased fetal nuchal folds, Deletion of chromosomal 4p, Wolf-Hirschhorn syndrome