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)
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families)
ARCHIDIACONO, Nicoletta;ROCCHI, Mariano;
1987-01-01
Abstract
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)I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
