Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/45490
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dc.contributor.authorRivera, H.
dc.contributor.authorGutierrez-Angulo, M.
dc.contributor.authorGomez-Sanchez, H.
dc.contributor.authorMacias-Gomez, N.
dc.contributor.authorBarros-Nunez, P.
dc.date.accessioned2015-09-15T19:14:22Z-
dc.date.available2015-09-15T19:14:22Z-
dc.date.issued2002
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-0036021291&partnerID=40&md5=66c0ef75b456b354e4cae110a88d2640
dc.identifier.urihttp://hdl.handle.net/20.500.12104/45490-
dc.description.abstractA 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. � 2002 �ditions scientifiques et m�dicales Elsevier SAS. All rights reserved.
dc.relation.isreferencedbyScopus
dc.relation.isreferencedbyWOS
dc.titleTrue vs. false inv(Y)(p11q11.2): A familial instance concurrent with trisomy 21
dc.typeArticle
dc.identifier.doi10.1016/S0003-3995(02)01112-7
dc.relation.ispartofjournalAnnales de Genetique
dc.relation.ispartofvolume45
dc.relation.ispartofissue2
dc.relation.ispartofpage63
dc.relation.ispartofpage65
dc.subject.keywordHuman chromosomes; Trisomy 21; Y-chromosome inversions
dc.contributor.affiliationRivera, H., Divisi�n De Gen�tica, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jalisco, Mexico, Doctorado En Gen�tica Humana, Universidad De Guadalajara, Guadalajara, Jalisco, Mexico; Guti�rrez-Angulo, M., Divisi�n De Gen�tica, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jalisco, Mexico, Doctorado En Gen�tica Humana, Universidad De Guadalajara, Guadalajara, Jalisco, Mexico; G�mez-S�nchez, H., Divisi�n De Gen�tica, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jalisco, Mexico; Mac�as-G�mez, N., Divisi�n De Gen�tica, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jalisco, Mexico, Doctorado En Gen�tica Humana, Universidad De Guadalajara, Guadalajara, Jalisco, Mexico; Barros-N��ez, P., Divisi�n De Gen�tica, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jalisco, Mexico, Doctorado En Gen�tica Humana, Universidad De Guadalajara, Guadalajara, Jalisco, Mexico
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