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Partial 2p trisomy (p21→pter) in two siblings of a family with a 2p‐:15q+ translocation
Author(s) -
Armendares Salvador,
SalamancaGómez Fabio
Publication year - 1978
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.1399-0004.1978.tb04125.x
Subject(s) - chromosomal translocation , partial trisomy , trisomy , meiosis , genetics , karyotype , biology , medicine , chromosome , gene
Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent‐1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.