Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/39351
Full metadata record
DC FieldValueLanguage
dc.contributor.authorVasquez-Velasquez, A.I.
dc.contributor.authorArnaud-Lopez, L.
dc.contributor.authorFiguera, L.E.
dc.contributor.authorPadilla-Gutierrez, J.R.
dc.contributor.authorRivas, F.
dc.contributor.authorRivera, H.
dc.date.accessioned2015-09-15T17:17:29Z-
dc.date.available2015-09-15T17:17:29Z-
dc.date.issued2005
dc.identifier.urihttp://hdl.handle.net/20.500.12104/39351-
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-31144460200&partnerID=40&md5=e0b516b922d2954a5bfeebc05412b766
dc.description.abstractWe describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Mollerian derivates. His karyotype was 45,X,der(Y;9)(q12;p24).ish der(Y;9)(DYZ3+,SRY+,9ptel-) de novo. This patient's impaired sex differentiation is consistent with gonadal dysgenesis and compares with the male-to-female sex reversal secondary to a partial 9p deletion in spite of an intact Yp or SRY locus documented in 24 patients including a sex-reversed girl with a (Y;9) dicentric derivative. As for the cytogenetic findings, this case represents the second instance of a de novo pseudodicentric (Y;9) chromosome with loss of both distal 9p and Yq12 regions, apparent intactness of SRY, and consistent or preferential inactivation of the Y centromere. In addition, the possible 9p23p-p22 duplication observed in this case evokes the concomitant 9p22-p21 duplication documented in the previous girl with a (Y;9) derivative. Hence, these striking similarities point to a nonrandom Y;9 rearrangement in patients with either sex reversal or gonadal dysgenesis. Even if the present pseudodicentric derivative had inactivated the Y centromere, the existence of some variant cells points to functional dicentricity as it has been documented in other Y;autosome dicentric derivatives.
dc.relation.isreferencedbyScopus
dc.titleAmbiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)
dc.typeArticle
dc.relation.ispartofjournalJournal of Applied Genetics
dc.relation.ispartofvolume46
dc.relation.ispartofissue4
dc.relation.ispartofpage415
dc.relation.ispartofpage418
dc.subject.keyword9p chromosome; Deletion; Sex reversal
dc.contributor.affiliationVásquez-Velásquez, A.I., Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal, Mexico; Arnaud-López, L., Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal, Mexico; Figuera, L.E., Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal, Mexico; Padilla-Gutiérrez, J.R., Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal, Mexico; Rivas, F., Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal, Mexico; Rivera, H., Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal, Mexico, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jal, Mexico
Appears in Collections:Producción científica UdeG

Files in This Item:
There are no files associated with this item.


Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.