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Familial partial trisomy 5p resulting from segregation of an insertional translocation
Author(s) -
Gustavson KarlHenrik,
Lundberg Per Olov,
Nicol Peter
Publication year - 1988
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.1399-0004.1988.tb03472.x
Subject(s) - chromosomal translocation , mentally retarded , trisomy , genetics , gene duplication , partial trisomy , biology , chromosome , karyotype , psychology , gene , developmental psychology
A case of duplication of segment p13–p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.