Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.
We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.
Helmuth
R A
RA
Department of Pathology, Methodist Hospital of Indiana, Indianapolis.
Weaver
D D
DD
Wills
E R
ER
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D004431:Ear, External / Q000002:abnormalities*; D005124:Eye Abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D009666:Nose / Q000002:abnormalities; D013577:Syndrome