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Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14)
Author(s) -
Petit Paul,
Hilliker Carl,
Leuven Fred,
Fryns JeanPierre
Publication year - 1994
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.1399-0004.1994.tb04165.x
Subject(s) - trisomy , phenotype , daughter , monosomy , biology , genetics , aneuploidy , replication (statistics) , medicine , karyotype , endocrinology , chromosome , gene , evolutionary biology , virology
In this report we describe the mild phenotypic manifestations and normal gonadal function in a 50‐year‐old mother and her 17‐year‐old daughter with 4p trisomy resulting from an unbalanced t(X;4)(p22.1;p14) mat. Late replication of the der(X) was demonstrated by BrdU incorporation with spreading of the late replication to the 4p portion as an explanation of the reduced effect of the trisomy 4p/monosomy Xp on the physical and secondary sexual development in both patients.