title: Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation.
abstract: We describe a 20-week-gestation male fetus with partial dup(5p) and proximal dup(13q), 47,XY,t(5;13)(p15;q21), + der(13)t(5;13)(p15;q21) mat. This finding is attributable to second meiotic nondisjunction of the rearranged chromosome in a maternal balanced reciprocal translocation. To the best of our knowledge, there have been only 3 previous reports of a similar error in the segregation of the rearranged chromosomes. For the first time evidence has been given that this unusual segregation is due to maternal second meiotic nondisjunction, using QFQ banding heteromorphisms. Second meiotic malsegregation should be taken into account in the consideration of reproductive problems in carriers of balanced translocations.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: Y
authors.initials: Y
authors.lastname: Cholsong
authors.forename: T
authors.initials: T
authors.lastname: Kuwahara
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: I
authors.initials: I
authors.lastname: Kawabata
authors.forename: T
authors.initials: T
authors.lastname: Tamaya
authors.forename: Y
authors.initials: Y
authors.lastname: Morishita
authors.forename: N
authors.initials: N
authors.lastname: Yoshimi
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D000015:Abnormalities, Multiple; D002882:Chromosomes, Human, Pair 13; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008540:Meiosis / Q000235:genetics*; D009630:Nondisjunction, Genetic; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy