X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families).
Fourteen families with X-linked mental retardation (XMR) have been studied clinically and cytogenetically. All affected males failed to show a fragile site (FS) on Xq of their peripheral lymphocytes. Five families may be considered examples of Renpenning syndrome while the remaining may be divided in two groups: one of seven (type I) and one of two (type II). The seven families of type I had some physical features of the Martin-Bell syndrome but with normal to large sized testes whence the name of X-linked MR with slight macroorchidism (XMR +/- MO). The two families of type II showed unremarkable facial appearance, mild to moderate degree of MR and a certain microorchidism whence the possible name of X-linked MR with different degree of microorchidism (XMR +/- MiO).
Archidiacono
N
N
Cattedra di Genetica Medica, Università di Trieste.
Rocchi
M
M
Rinaldi
A
A
Filippi
G
G
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome