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Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites
Author(s) -
Mules E. H.,
Stamberg J.,
Jabs E. W.,
Leonard C. O.
Publication year - 1983
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.1399-0004.1983.tb00450.x
Subject(s) - offspring , genetics , chromosome , biology , fragile x , medicine , gene , pregnancy
Two siblings were found with different structural abnormalities involving their maternally inherited chromosome 13. The proband exhibited a ring 13 and a small fragment: 46, XX, r(13) (pllq34), +f, while her clinically normal brother carried a dicentric Robertsonian translocation: 45, XY, dic(13;15) (pl 1;pl 1). Both parents had normal karyotypes in peripheral blood and skin fibroblasts. The structural abnormalities of chromosome 13 may be due to an unstable gonadal 13; 15 translocation in the mother. In addition, two autosomal fragile sites were segregating in this family. The mother had a fragile (16) (q22) which was inherited by the proband. The father and paternal grandmother possessed a fragile (12)(q13) which was not inherited by either child. The expression of both fragile sites was dependent on culture conditions.