Hindawi Publishing Corporation Case Reports in Genetics Volume 2013, Article ID 895259, 8 pages http://dx.doi.org/10.1155/2013/895259 Case Report 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, 1 C. García-Delgado, 1 A. Cervantes, 2,3 A. Aparicio-Onofre, 1 R. Guevara-Yáñez, 4 R. Sánchez-Urbina, 1 M. P. Gallegos-Arreola, 5 A. Luna-Angulo, 6 F. J. Estrada, 6 and V. F. Morán-Barroso 1 1 Department of Genetics, Hospital Infantil de M´ exico Federico G´ omez, Calle Dr. M´ arquez 162, Colonia Doctores Del. Cuauht´ emoc, 06720 Mexico City, DF, Mexico 2 Genetics Service, Hospital General de M´ exico Dr. Eduardo Liceaga, Calle Dr. Balmis 148, 06726 Mexico City, DF, Mexico 3 Medicine Faculty, UNAM, Avenida Universidad 3000, 04510 Mexico City, DF, Mexico 4 Biogen Laboratory, Calle Dr. Vertiz 247-A, 06720 Mexico City, DF, Mexico 5 Molecular Medicine Division, CIBO, IMSS, Calle Sierra Mojada 800, 44340 Guadalajara, JAL, Mexico 6 Molecular Biology Laboratory, Science Health Faculty, Universidad Panamericana, Calle Donatello 59, 03920 Mexico City, DF, Mexico Correspondence should be addressed to V. F. Mor´ an-Barroso; vfmoran@himfg.edu.mx Received 12 July 2013; Accepted 5 August 2013 Academic Editors: A. Sazci and X. Wang Copyright © 2013 M. Abreu-Gonz´ alez et al. his is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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. here are 4 afected individuals and several carriers among three generations. he report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to deine the phenotype associated with the syndrome. Furthermore, we conirmed that the survival until adulthood is possible. his report also identiied the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype. 1. Introduction Chromosomal abnormalities that result in genomic imbal- ances are a major cause of congenital and developmental anomalies including multiple congenital malformations and mental retardation [1]. hey can result from a numerical imbalance or from a structural change in the chromosomes resulting in partial deletions and/or duplications. Partial duplication of chromosome 3q syndrome (dup(3q)) is a well-described condition that has overlapping features with the Brachmann de Lange syndrome (MIM 122470) [2–4]. he phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, con- genital heart disease, genitourinary disorders, and mental retardation [5]. In approximately 60%–75% of cases, it is derived from a balanced translocation [2, 6, 7], which also presents a concomitant deletion of another chromosome; however, the clinical manifestations appear to be dominated by the dup(3q) phenotype [3, 8]. Some of the reported cases are pure partial trisomies that allowed to deine a critical region in 3p26.3-q27 [2, 5, 9–11]. Here we report the clinical, cytogenetic, and biochemical characteristics of