Tetrasomy 18p: tentative delineation of a syndrome

D A Batista; A M Vianna-Morgante; A Richieri-Costa

doi:10.1136/jmg.20.2.144

Tetrasomy 18p: tentative delineation of a syndrome

J Med Genet. 1983 Apr;20(2):144-7. doi: 10.1136/jmg.20.2.144.

Authors

D A Batista, A M Vianna-Morgante, A Richieri-Costa

Abstract

A patient is described with multiple congenital anomalies and probable tetrasomy 18p resulting from an extra i(18p) in an otherwise normal karyotype. Review of ten previously reported i(18p) cases allowed the tentative characterisation of a tetrasomy 18p syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, 16-18*
Humans
Infant
Male
Psychomotor Performance / physiology
Syndrome