Ring chromosome 8 associated with microcephaly

R Mingarelli; G Valorani; L Zelante; B Dallapiccola

Ring chromosome 8 associated with microcephaly

Ann Genet. 1991;34(2):90-2.

Authors

R Mingarelli¹, G Valorani, L Zelante, B Dallapiccola

Affiliation

¹ Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.

PMID: 1746890

Abstract

A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

Publication types

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

MeSH terms

Chromosomes, Human, Pair 8*
Female
Humans
Infant
Intellectual Disability / etiology
Intellectual Disability / genetics*
Karyotyping
Microcephaly / complications
Microcephaly / genetics*
Phenotype
Ring Chromosomes*