Congenital glaucoma in a child with partial 1q duplication and 9p deletion.
A case of partial duplication of chromosome 1 (1q41-qter) and partial deletion of chromosome 9 (9p24-pter) with infantile congenital glaucoma is reported. The histopathology of the eyes is described. The clinical findings ascribed to trisomy 1q and partial monosomy 9p are summarized and compared to this case. As this is the second report of a patient with monosomy 9p24-pter and congenital glaucoma, it may indicate localization of a gene involved in congenital glaucoma in this region of the human genome.
Verbraak
F D
FD
Department of Ophthalmogenetics, Netherlands Ophthalmic Research Institute, Amsterdam.
Pogány
K
K
Pilon
J W
JW
Mooy
C M
CM
de France
H F
HF
Hennekam
R C
RC
Bleeker-Wagemakers
E M
EM
D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002899:Chromosomes, Human, Pair 9; D003582:Cytogenetics; D005260:Female; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D014129:Trabecular Meshwork / Q000473:pathology