Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
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.
Bennett
C P
CP
Department of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London.
Betts
D R
DR
Seller
M J
MJ
D000853:Anophthalmos / Q000235:genetics*; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010902:Pituitary Gland / Q000002:abnormalities*