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Insertional translocation into the X chromosome of a 46, XY male
Author(s) -
Sparkes Robert S.,
Salter William J.,
Blaker Robert G.,
Muller Helga M.
Publication year - 1977
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.1399-0004.1977.tb00912.x
Subject(s) - chromosomal translocation , genetics , biology , chromosome , chromosome analysis , x chromosome , karyotype , gene
A baby boy with multiple congenital anomalies and low birth weight has an apparent de novo insertional translocation into the long arm of his only X chromosome. The origin of the translocated material is not evident and both cytogenetic and X‐linked marker studies do not indicate any loss of genetic material from the X chromosome. His findings are compared with other males who have X‐translocations, none of which appear to be insertional translocations.