Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities

C P Bennett; D R Betts; M J Seller

doi:10.1136/jmg.28.4.280

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities

J Med Genet. 1991 Apr;28(4):280-1. doi: 10.1136/jmg.28.4.280.

Authors

C P Bennett¹, D R Betts, M J Seller

Affiliation

¹ Department of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London.

Abstract

A fetus is described with anophthalmia, absent pituitary, hypoplastic adrenal glands and kidneys, absent left horn of the uterus, underdeveloped genitalia, and clinodactyly, with a deletion of 14(q22q23). A review of published reports found no similar deletion cases.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Anophthalmos / genetics*
Cells, Cultured
Chromosome Aberrations*
Chromosome Deletion*
Chromosome Disorders*
Chromosomes, Human, Pair 14 / ultrastructure*
Female
Humans
Infant, Newborn
Pituitary Gland / abnormalities*