Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation

T Lukusa; K Devriendt; J Jaeken; J P Fryns

Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation

Clin Dysmorphol. 1999 Jan;8(1):47-51.

Authors

T Lukusa¹, K Devriendt, J Jaeken, J P Fryns

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 10327251

Abstract

We report two male sibs with minor congenital anomalies and moderate to severe developmental delay who are trisomic for the interstitial 2q32.1-->q35 segment. The partial 2q duplication derived from a maternal balanced insertion translocation, 46,XX,dir ins (14;2)(q22;q32.1q35). To the best of our knowledge, no similar case observation has been previously published.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 2*
Developmental Disabilities / genetics
Female
Genomic Imprinting
Humans
Infant
Karyotyping
Male
Mothers
Nuclear Family*
Translocation, Genetic*
Trisomy*