Partial monosomy of the long arm of chromosome 11 in a severely affected child.
A white female infant affected with deletion of the terminal end of the long arm of chromosome 11 (11q-) is presented. The clinical features--including trigonocephaly, epicanthal folds, coloboma of iris, prominent occiput, dysplastic ears, carp-shaped mouth, micrognathia, pectus excavalum single umbilical artery, anorectal malformation, dysplastic fifth fingers, hypoplastic nails, simian creases, hydronephrotic multicystic kidney, neutropenia, thrombocytopenia, and congenital heart anomalies--are compatible with the majority of reported cases. Clinical features observed in this patient, however, represent a much more severely affected pattern than reported in 11q- patients previously.
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn