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J Genet Hum. 1987 Dec;35(5):381-98.

X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families).

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Cattedra di Genetica Medica, Università di Trieste.


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).

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