Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

M Abreu-González,R Guevara-Yáñez,A Aparicio-Onofre,A Luna-Angulo,M P Gallegos-Arreola,R Sánchez-Urbina,C García-Delgado,V F Morán-Barroso,A Cervantes,F J Estrada

doi:10.1155/2013/895259

Abstract

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

Highlights

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies including multiple congenital malformations and mental retardation [1]
We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2)
As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome

Summary

Introduction

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies including multiple congenital malformations and mental retardation [1]. They can result from a numerical imbalance or from a structural change in the chromosomes resulting in partial deletions and/or duplications. 4 patients belonging to the same family with an inherited pure duplication of 3q26.2-qter resulting from an adjacent 1 segregation from a balanced maternal t(3;13)(q26.2;p11.2) In this family, mucopolysacchariduria was diagnosed on biochemical exams, which apparently is not related to the chromosomal abnormality or clinical manifestations

Cases Presentation

Findings

Discussion

Conclusion