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The Unbalanced Offspring of the Male Carriers of the 11q;22q Translocation: Nondisjunction at Meiosis II in a Balanced Spermatocyte

Overview
Journal Hum Genet
Specialty Genetics
Date 1992 Feb 1
PMID 1740326
Citations 5
Authors
P Simi
M Ceccarelli
A Barachini
G Floridia
O Zuffardi
Affiliations
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Abstract

Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.

Citing Articles

A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.

Jobanputra V, Chung W, Hacker A, Emanuel B, Warburton D Prenat Diagn. 2005; 25(8):683-6.

PMID: 16049998 PMC: 2810961. DOI: 10.1002/pd.1196.

Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation.

Armstrong S, Goldman A, Speed R, Hulten M Am J Hum Genet. 2000; 67(3):601-9.

PMID: 10936106 PMC: 1287520. DOI: 10.1086/303052.

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Shaikh T, Budarf M, Celle L, Zackai E, Emanuel B Am J Hum Genet. 1999; 65(6):1595-607.

PMID: 10577913 PMC: 1288370. DOI: 10.1086/302666.

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

Dawson A, Mears A, Chudley A, Bech-Hansen T, McDermid H J Med Genet. 1996; 33(11):952-6.

PMID: 8950677 PMC: 1050791. DOI: 10.1136/jmg.33.11.952.

Involvement of 3:1 disjunction in the common reciprocal translocation t(11;22) (q23.3;q11.2).

CHANDLEY A Hum Genet. 1992; 90(1-2):191-2.

PMID: 1427783 DOI: 10.1007/BF00210779.

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