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Biomedical subjects

H T Lund

Publications and source records attributed to H T Lund.

32 records · Page 2Linked to original sources

A family with Möbius syndrome.

A classic Möbius syndrome, including bilateral abducens-facial paralysis, was found in a newborn boy. At least 15 maternal relatives showed partial features of the syndrome. As potential features of Möbius syndrome also were found in the father's side of the family, a recessive mode of inheritance is suggested.

Female↗

Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl.

Less than 10 cases of trisomy 22 mosaicism have been reported. The patients have clinical features in common with both Down's and Turner's syndromes. We report on a 12-year-old girl, in whom the GFR-stimulated gonadotropine response suggested ovarian dysgenesis, although ovarian structures could be demonstrated by ultrasound. The diagnosis of trisomy 22 mosaicism was established by chromosome analysis of cultured skin fibroblasts following a negative lymphocyte culture.

Abnormalities, Multiple↗