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Somatic chromosome complement in continuously cultured cells of two individuals with gonadal dysgenesis *
Author(s) -
FRACCARO M.,
KAIJSERJ K.,
LINDSTEN J.
Publication year - 1959
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1959.tb01714.x
Subject(s) - karyotype , biology , gonadal dysgenesis , chromosome , somatic cell , genetics , endocrinology , gene
Summary 1. Previous evidence in favour of the concept that certain patients with gonadal dysgenesis have a sex‐chromosome constitution of the type XO and that this originates through nondisjunction during gameto‐genesis of the parents is discussed. 2. The methods for in vitro cultivation of cells derived from sternal marrow and skin of adult individuals and the screening, staining and chromosome‐counting procedures are described in detail. 3. Some aspects of the natural history of these cultures are discussed. 4. The clinical findings in two girls affected with gonadal dysgenesis of the Turner's type are briefly reported. 5. Marrow and skin cells derived from these patients have been continuously cultivated in vitra and their chromosome numbers and complements determined. In both cases the cells displayed a modal number of forty‐five chromosomes. Analysis of the karyotype of these cells and comparison with the normal female cell karyotype showed that an X chromosome is probably missing. After several transfers in vitro the chromosome number and the karyotype were unchanged. 6. The theoretical and practical implications of these findings are discussed. In man the Y chromosome is a bearer of male‐determining factors. Patients with this type of gonadal dysgenesis are to be considered females with an unusual genotype.