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Decreasing mosaicism in Down's syndrome
Author(s) -
Wilson Miriam G.,
Tower Joseph W.,
Forsman Irene
Publication year - 1980
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.1399-0004.1980.tb00159.x
Subject(s) - trisomy , down syndrome , aneuploidy , peripheral blood , karyotype , bone marrow , girl , medicine , biology , genetics , pathology , endocrinology , andrology , chromosome , gene
A girl with trisomy‐21/normal mosaicism has been abserved for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome, mosaicism with a normal cell line may dilute the typical appearance of Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisornic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4 % trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of life.