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De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation
Author(s) -
Hordnes Knut,
Engebretsen Lars Fredrik,
Knudtzon Jørgen
Publication year - 1995
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.1399-0004.1995.tb04118.x
Subject(s) - chromosomal translocation , ventriculomegaly , stenosis , karyotype , medicine , imperforate anus , anatomy , genetics , biology , chromosome , fetus , pregnancy , gene
An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.