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

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...

Full description

Saved in:

Bibliographic Details
Published in:	Clinical genetics Vol. 27; no. 1; p. 105
Main Authors:	Rivera, H, Rolón, A, Sánchez-Corona, J, Cantú, J M
Format:	Journal Article
Language:	English
Published:	Denmark 01-01-1985
Subjects:	Abnormalities, Multiple - genetics Chromosome Deletion Chromosomes, Human, 4-5 Humans Infant Male Monosomy Syndrome Translocation, Genetic
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
ISSN:	0009-9163
DOI:	10.1111/j.1399-0004.1985.tb00193.x