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Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father
Author(s) -
Cabalun M. Rosa,
Miro Rosa,
Egozcue J.
Publication year - 1981
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.1399-0004.1981.tb01053.x
Subject(s) - chromosomal translocation , phenotype , genetics , variable expression , biology , reciprocal , gene , philosophy , linguistics
A 10‐month‐old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literature.