Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring

M S Watson; S B Dowton; J Rohrbaugh

doi:10.1002/ajmg.1320360209

Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring

Am J Med Genet. 1990 Jun;36(2):172-4. doi: 10.1002/ajmg.1320360209.

Authors

M S Watson¹, S B Dowton, J Rohrbaugh

Affiliation

¹ Edward Mallinckrodt Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, MO 63110.

PMID: 2368804
DOI: 10.1002/ajmg.1320360209

Abstract

An infant with developmental delay and multiple minor congenital anomalies had a duplication of bands p11.1----p14.2 in 3p. Maternal chromosome studies demonstrated a direct intrachromosomal insertion within chromosome 3p.

Publication types

Case Reports

MeSH terms

Chromosome Banding
Chromosomes, Human, Pair 3*
Humans
Infant
Male
Multigene Family*
Syndrome