A case of 48,XXXX female with normal intelligence.

A 48,XXXX female

“…The clinical data (Table III) indicate the absence of a definite 48,XXXX phenotype. Mental retardation was noted in 16 patients; of the remaining three subjects one had normal intelligence (Blackston and Chen, 1972) while the IQ of two others fell into the sub-normal range (Di Cagno and Franceschini, 1968;Hanicka et al, 1969). The patient reported by Duncan, Nicholl, and Downes (1970) had an IQ of 94 in a nonverbal test; however, her verbal IQ was only 59.…”

“…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, …”

A 48,XXXX female with absence of ovaries

“…The most consistent manifestation is a variable degree of mental retardation affecting most prominently speech development. In the one subject reported to be of normal intelligence, a severe articulation problem with delay in both expressive and receptive language was noted [7] . Stature is normal to tall.…”

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

“…However, one patient has been described with normal intelligence [Hara et al, 1975]. Minor dysmorphic features have also been variably described, such as upslanting palpebral fissures, epicanthal folds [Blackston and Chen, 1972], hypertelorism, wide nasal bridge, and midface retrusion. Some patients also have a short neck, a low posterior hairline, and 5th finger clinodactyly.…”