Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, + i(8p)/46,XY

U Kristoffersson; J Lagergren; S Heim; N Mandahl

doi:10.1111/j.1399-0004.1988.tb02863.x

Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, + i(8p)/46,XY

Clin Genet. 1988 Sep;34(3):201-3. doi: 10.1111/j.1399-0004.1988.tb02863.x.

Authors

U Kristoffersson¹, J Lagergren, S Heim, N Mandahl

Affiliation

¹ Department of Clinical Genetics, University Hospital, Lund, Sweden.

PMID: 3180507
DOI: 10.1111/j.1399-0004.1988.tb02863.x

Abstract

A 5-year-old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic karyotype 47,XY, + i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 8*
Humans
Intellectual Disability / genetics*
Karyotyping
Male
Mosaicism*
Ribs / abnormalities
Spine / abnormalities