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Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas
Author(s) -
Riccardi Vincent M.,
Hittner Helen Mintz,
Francke Uta,
Pippjn Susan,
Holmquist Gerald P.,
Kretzer Frank L.,
Ferrell Robert
Publication year - 1979
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.1399-0004.1979.tb01743.x
Subject(s) - proband , biology , chromosome 13 , breakpoint , genetics , chromosomal translocation , chromosome , gene , karyotype , mutation
This report compares the pathogenetic influences of selective deletion and triplication of chromosome 13 derived from a familial 12; 13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46, XY, del (13) (pter → q12.5::q22.→qter)mat], and in his sister the relatively modest effects of triplication of the mid–portions of 13q are demonstrated [46, XX, ins(12;13) (12pter→–12pll.2::13q22.1→13q12.5::12pll.2→12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about the breakpoints.