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Am J Med Genet. 1989 Mar;32(3):376-9. doi: 10.1002/ajmg.1320320322.

A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.

American journal of medical genetics

F Halal, M Vekemans, V M Der Kaloustian


  1. Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.

PMID: 2658588 DOI: 10.1002/ajmg.1320320322


Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.

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