title: Centromeric association of a microchromosome Y in two male patients.
abstract: We characterized two Y-ring microchromosomes (MC) found in an azoospermic patient with Turner stigmata (case A) and a male infant with hypospadias (case B). The karyotypes, as assessed by banding, FISH, and STRs/STSs analyses, were 46,X,r(Y).ish r(Y)(p11.3q11.222)(SRY+,DYZ3+) and 46,X,+r(Y)/45,X.ish r(Y)(p 11.2q11.2)(Xp/Yp-,SRY+,DYZ3+) respectively. In both cases, we evaluated the association of each MC with the centromere of the nearest and second nearest chromosomes in G-banded metaphases by means of measuring the intervening distance according to two criteria: < or =1 time or < or =3 times the size of the MC in each metaphase. The case A's MC was associated 84 times in 98 cells according to the latter or less strict criterion and two times in 98 cells according to the strict criterion; the corresponding values for case B were 84 and two in 95 cells respectively. The centromeric association appears to be related to centromeric attraction mediated by heterochromatin or centromere-specific proteins, the replication time, and the Rabl orientation.
authors: CUCs-U de G, Guadalajara Jal., México.
authors: M G
authors: MG
authors: Domínguez
authors: A I
authors: AI
authors: Vásquez
authors: R
authors: R
authors: Troyo
authors: M
authors: M
authors: Ortiz-Aranda
authors: J R
authors: JR
authors: Padilla
authors: G
authors: G
authors: Hernández-Zaragoza
authors: F
authors: F
authors: Rivas
authors: H
authors: H
authors: Rivera
mesh_terms: D000328:Adult; D002503:Centromere / Q000235:genetics* / Q000648:ultrastructure*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000150:complications; D007621:Karyotyping; D008297:Male; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics; D020696:rab5 GTP-Binding Proteins / Q000235:genetics
chemical_list: C427755:RAB5C protein, human; D020696:rab5 GTP-Binding Proteins