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Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16)
Author(s) -
Hastings Rosalind,
Hamer Beverley,
Roth Simon,
Lucas Mary
Publication year - 1990
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.1399-0004.1990.tb03559.x
Subject(s) - proband , partial trisomy , genetics , meiosis , trisomy , biology , chromosome , karyotype , mutation , gene
Partial trisomy 4p was found in a child with dysmorphic features. Cytogenetic investigations in the parents revealed an intrachromosomal insertion in the mother, 46,XX,ins (4)(q313p14p16). The proband was trisomic for 4p(p14p16) as a result of a recombination event in the mother's chromosome 4 at meiosis. The clinical features of the proband are compared with those found in the literature.