Clinical genetics · 1983
Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites.
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Mules E H, Stamberg J, Jabs E W, Leonard C O
Аннотация
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) (p11q34), +f, while her clinically normal brother carried a dicentric Robertsonian translocation: 45,XY,dic(13;15) (p11;p11). 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.