De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment

H Rivera; A Rolón; J Sánchez-Corona; J M Cantú

doi:10.1111/j.1399-0004.1985.tb00193.x

De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment

Clin Genet. 1985 Jan;27(1):105-9. doi: 10.1111/j.1399-0004.1985.tb00193.x.

Authors

H Rivera, A Rolón, J Sánchez-Corona, J M Cantú

PMID: 3978836
DOI: 10.1111/j.1399-0004.1985.tb00193.x

Abstract

An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5q15 as the correspondent critical segment.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Chromosome Deletion*
Chromosomes, Human, 4-5*
Humans
Infant
Male
Monosomy*
Syndrome
Translocation, Genetic*