Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

J L Tolmie; E Boyd; P Batstone; M E Ferguson-Smith; L al Roomi; J M Connor

doi:10.1007/BF00702872

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

Hum Genet. 1988 Oct;80(2):197-200. doi: 10.1007/BF00702872.

Authors

J L Tolmie¹, E Boyd, P Batstone, M E Ferguson-Smith, L al Roomi, J M Connor

Affiliation

¹ Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals, Glasgow, UK.

PMID: 3169747
DOI: 10.1007/BF00702872

Abstract

We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Adult
Chromosome Aberrations*
Female
Growth Disorders / genetics*
Humans
Infant, Newborn
Intellectual Disability / genetics*
Male
Microcephaly / genetics*
Mosaicism*
Mutation*
Phenotype