Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome
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,...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/895259 |
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| author | M. Abreu-González C. García-Delgado A. Cervantes A. Aparicio-Onofre R. Guevara-Yáñez R. Sánchez-Urbina M. P. Gallegos-Arreola A. Luna-Angulo F. J. Estrada V. F. Morán-Barroso |
| author_facet | M. Abreu-González C. García-Delgado A. Cervantes A. Aparicio-Onofre R. Guevara-Yáñez R. Sánchez-Urbina M. P. Gallegos-Arreola A. Luna-Angulo F. J. Estrada V. F. Morán-Barroso |
| author_sort | M. Abreu-González |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1b995f1c27b94acea0ba53d9932a67ea |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-1b995f1c27b94acea0ba53d9932a67ea2025-08-20T03:54:56ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/895259895259Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication SyndromeM. Abreu-González0C. García-Delgado1A. Cervantes2A. Aparicio-Onofre3R. Guevara-Yáñez4R. Sánchez-Urbina5M. P. Gallegos-Arreola6A. Luna-Angulo7F. J. Estrada8V. F. Morán-Barroso9Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores Del. Cuauhtémoc, 06720 Mexico City, DF, MexicoDepartment of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores Del. Cuauhtémoc, 06720 Mexico City, DF, MexicoGenetics Service, Hospital General de México Dr. Eduardo Liceaga, Calle Dr. Balmis 148, 06726 Mexico City, DF, MexicoDepartment of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores Del. Cuauhtémoc, 06720 Mexico City, DF, MexicoBiogen Laboratory, Calle Dr. Vertiz 247-A, 06720 Mexico City, DF, MexicoDepartment of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores Del. Cuauhtémoc, 06720 Mexico City, DF, MexicoMolecular Medicine Division, CIBO, IMSS, Calle Sierra Mojada 800, 44340 Guadalajara, JAL, MexicoMolecular Biology Laboratory, Science Health Faculty, Universidad Panamericana, Calle Donatello 59, 03920 Mexico City, DF, MexicoMolecular Biology Laboratory, Science Health Faculty, Universidad Panamericana, Calle Donatello 59, 03920 Mexico City, DF, MexicoDepartment of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores Del. Cuauhtémoc, 06720 Mexico City, DF, MexicoChromosomal 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.http://dx.doi.org/10.1155/2013/895259 |
| spellingShingle | M. Abreu-González C. García-Delgado A. Cervantes A. Aparicio-Onofre R. Guevara-Yáñez R. Sánchez-Urbina M. P. Gallegos-Arreola A. Luna-Angulo F. J. Estrada V. F. Morán-Barroso 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 |
| title | Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome |
| title_full | Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome |
| title_fullStr | Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome |
| title_full_unstemmed | Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome |
| title_short | Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome |
| title_sort | clinical cytogenetic and biochemical analyses of a family with a t 3 13 q26 2 p11 2 further delineation of 3q duplication syndrome |
| url | http://dx.doi.org/10.1155/2013/895259 |
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