True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21
Case Report
| dc.creator | Rivera, Horacio | |
| dc.creator | Gutiérrez Angulo, Melva | |
| dc.creator | Gómez Sánchez, Hilda | |
| dc.creator | Macías Gómez, Nelly | |
| dc.creator | Barros Núñez, Patricio | |
| dc.date | 2015-07-22T16:41:16Z | |
| dc.date | 2015-07-22T16:41:16Z | |
| dc.date | 2002 | |
| dc.date.accessioned | 2023-07-21T21:39:31Z | |
| dc.date.available | 2023-07-21T21:39:31Z | |
| dc.identifier | Rivera, H., Gutiérrez-Angulo, M., Gómez-sánchez, H., Macías Gómez, N., & Barros Núñez, P. (2002). True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21. Annales de Génétique, 45, 63–65. Retrieved from http://www.sciencedirect.com/science/article/pii/S0003399502011127 | |
| dc.identifier | 1769-7212 | |
| dc.identifier | doi:10.1016/S0003-3995(02)01112-7 | |
| dc.identifier | http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/362 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/7752046 | |
| dc.description | A boy with Down syndrome due to a free trisomy 21 also had a metacentric Y chromosome with an arm euchromatic and the other heterochromatic inherited from his phenotypically normal father. This chromosome was mitotically stable and hybridized with the DYZ3 probe precisely at its primary constriction; in addition, a subtelomeric Xp/Yp probe gave the expected signal near the end of the euchromatic arm. So, the proband’s karyotype was 47,X,inv(Y)(p11q11.2),+21. Given the high frequency of both chromosome anomalies, we regard its concurrence as a mere coincidence. This observation, along with previous reports, allows us to classify the apparent pericentric inversions of the Y chromosome into two types: “true” inversions characterized by an alphoid single centromere and mitotic stability, and “false” inversions in which a nonalphoid centromere has taken over the usual alphoid centromere; indeed, these chromosomes are dicentric and mitotically unstable. Finally, the inv(Y) polymorphism in man compares with that documented in other mammal species, in which the rearranged Y chromosome neither impairs the fertility nor has other phenotypical consequences. | |
| dc.description | División de Genética, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jalisco, Mexico Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico | |
| dc.language | en | |
| dc.publisher | Elsevier Masson SAS | |
| dc.relation | Annales de Génétique;Volume 45, Issue 2, Pages 53-103 (April–June 2002) | |
| dc.subject | human chromosomes | |
| dc.subject | trisomy 21 | |
| dc.subject | Y-chromosome inversions | |
| dc.title | True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21 | |
| dc.title | Case Report | |
| dc.type | Article |