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Hum Genet. 1984;65(3):311-5.

Trisomy 16q13----qter in a infant from a t(11;16)(q25;q13) translocation-carrier father.


A female infant with 16q trisomy resulting from a paternally inherited balanced translocation is described and compared with five previously reported cases. All the babies were of low birth weight and expired within 1 year, with only one exception. Necropsy of the present case revealed atrial septal defect, single left lobe of the lung, anomalous lobulation of the liver, agenesis of the gall bladder, and anovestibular fistula.

[Indexed for MEDLINE]

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