Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2) : Further Delineation of 3q Duplication Syndrome
Joint Authors
Aparicio-Onofre, A.
Abreu-González, M.
Sánchez-Urbina, R.
Gallegos-Arreola, M. P.
Guevara-Yáñez, R.
García-Delgado, C.
Cervantes, A.
Estrada, F. J.
Morán-Barroso, V. F.
Luna-Angulo, A.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-09-18
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Abreu-González, M.& García-Delgado, C.& Cervantes, A.& Aparicio-Onofre, A.& Guevara-Yáñez, R.& Sánchez-Urbina, R.…[et al.]. 2013. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2) : Further Delineation of 3q Duplication Syndrome. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-506181
Modern Language Association (MLA)
Abreu-González, M.…[et al.]. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2) : Further Delineation of 3q Duplication Syndrome. Case Reports in Genetics No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-506181
American Medical Association (AMA)
Abreu-González, M.& García-Delgado, C.& Cervantes, A.& Aparicio-Onofre, A.& Guevara-Yáñez, R.& Sánchez-Urbina, R.…[et al.]. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2) : Further Delineation of 3q Duplication Syndrome. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-506181
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-506181