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Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation
Author(s) -
Ten S. K.,
Chin Y. M.,
Tan S. K.,
Hassan K.
Publication year - 1987
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.1399-0004.1987.tb02824.x
Subject(s) - chromosomal translocation , partial trisomy , breakpoint , trisomy , karyotype , genetics , reciprocal , biology , chromosome , gene , linguistics , philosophy
A family is described in which three siblings had congenital abnormalities consistent with partial trisomy 9q syndrome. Karyotyping indicated that the mother was a carrier of two separate balanced reciprocal translocations involving three chromosomes (46,XX,t (6;8;9)(6q27;8p23;9q32;9q13)) resulting from four breakpoints. The three siblings had inherited the der(8) from their mother and hence were partially trisomic for 9q32→9qter and partially monosomic for 8p23→9pter (46,XX,der(8),t(8;9)(p23;q32)mat). The clinical features of the three cases were comparable to those reported in the literature.