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Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi
Author(s) -
Fitzgerald P. H.,
Donald R. A.
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb00311.x
Subject(s) - isochromosome , buccal swab , x chromosome , endocrinology , short stature , biology , medicine , chromosome , andrology , karyotype , genetics , gene
An 18 year female patient with short stature, amenorrhoea and poorly developed secondary sexual characteristics, had subnormal oestrogen excretion and increased levels of plasma gonadotrophin. Laparoscopy revealed streak ovaries. A reduced number of buccal mucosal cells showed positive sex chromatin. Chromosome studies of blood lymphocytes indicated mosaicism: the major cell line was characterized by an isochromosome for the X short arm, 46,XXpi; the minor cell line had a single X chromosome, 45,X.