The case report presents details of Seckel dwarfism in a woman of 78 yr, with familial occurrence of the trait. Emphasis is placed on the presence of a 46,XX/47,XXX mosaicism.

A familial case of Seckel's syndrome with abnormal karyotype

ZAMBONI, Giorgio;
1980-01-01

Abstract

The case report presents details of Seckel dwarfism in a woman of 78 yr, with familial occurrence of the trait. Emphasis is placed on the presence of a 46,XX/47,XXX mosaicism.
1980
case report; congenital disorder; diagnosis; dwarfism; heredity; histology; mental deficiency; microcephaly; nose fracture; Seckel syndrome; sex chromosome mosaicism
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/236441
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