Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites

E. H. Mules, J. Stamberg, E. W. Jabs, C. O. Leonard

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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.

Original languageEnglish (US)
Pages (from-to)380-385
Number of pages6
JournalClinical Genetics
Issue number5
Publication statusPublished - 1983


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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