PEDIATRICS Vol. 37 No. 1 January 1966, pp. 92-101
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FAMILIAL DE LANGE SYNDROME WITH CHROMOSOME ABNORMALITIES

Arthur Falek Ph.D.1, Rina Schmidt M.D.1, and George A. Jervis M.D.1

1 Department of Medical Genetics, New York State Psychiatric Institute, New York City, and Research Department, Letchworth Village, Thiells, New York

Familial de Lange syndrome is described in three siblings and a maternal first cousin. A new chromosomal aberration has been found in this family in all affected children and in 7 unaffected carriers. Karyotypic differences between carriers and their affected children present evidence of an excess of some chromosome A 3 material producing the clinical disorder.

Submitted on May 21, 1965
Accepted on June 30, 1965




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