A female with the 48,XXXX karyotype.

A 48,XXXX female

“…A speech disorder has been reported in seven patients; in three instances the development of speech was more retarded than expected for the DQ (Carr et al, 1961;De Grouchy et al, 1968;Duncan et al, 1970). In four cases an articulation defect was reported (Di Cagno and Franceschini, 1968;Hanicka et al, 1969;Telfer et al, 1970;Blackston and Chen, (Berkeley and Faed, 1970;Telfer et al, 1970;Larget-Piet et al, 1972; and the present report). In one patient sur-prising verbosity was reported (Carr et al, 1961).…”

A case of 48,XXXX female with normal intelligence.

“…cases are described in the literature (Hanicka et al, 1969;Sokolowski, Knaus, and Kleczkowska, 1969;Berkeley and Faed, 1970;Duncan, Nicholl, and Downes, 1970;Park, Tyson, and Jones, 1970 The propositus was born weighing 3405 g after an uneventful 42-week pregnancy; at birth his mother was aged 26 and his father 27. Multiple congenital abnormalities were evident-a central scalp defect, microphthalmia, cleft soft palate, and prominent heels suggested the trisomy 13 syndrome (Patau et al, 1960).…”

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

“…Most patients are tall [Duncan et al, 1970] with skeletal abnormalities such as radioulnar synostosis [O'Connor and Sherman, 1988] and kyphosis. External genitalia are usually normal, but the labia may be underdeveloped [Berkeley and Faed, 1970]. Puberty may be delayed and incomplete with small breasts and sparse axillary and pubic hair.…”