Premium
Bilateral aniridia, multiple webs and severe mental retardation in a 47, XXY/48, XXXY mosaic
Author(s) -
Pashayan H.,
Dallaire L.,
Macleod P.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01132.x
Subject(s) - aniridia , cataracts , hypertelorism , medicine , biology , ophthalmology , anatomy , genetics , gene
Numerous congenital malformations consisting of aniridia, hypertelorism, bilateral webbing of the cubital and the popliteal regions and bilateral cryptorchidism were documented in a phenotypic male infant. Severe mental retardation, bilateral cataracts, exophthalmia and glaucoma followed by complete blindness were noted by the time the child was 9 1/2 years of age. Leukocyte and fibroblast cultures were reported to show two cell lines, a majority of the cells showing a 47, XXY complement and a minority showing a 48, XXXY complement.