De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation |
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| Authors: | K Hordnes LF Engebretsen J Knudtzon |
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| Affiliation: | Department of Medical Genetics, Haukeland Hospital, Bergen, Norway. |
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| Abstract: | 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. |
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