Duplication Deficiency As the Result of Meiotic Segregation of a Maternal InV (10)

Overview

Journal Hum Genet

Specialty Genetics

Date 1981 Jan 1

PMID 7262871

Citations 5

Authors

E Yunis

O Torres de Caballero

Affiliations

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Abstract

In a family a large pericentric inversion involving nearly 70% of the chromosome 10 has been segregating during three generations, giving several carriers and an affected male with the karyotype 46,XY,der(10)(10pter Leads to 10q25::10p12 Leads to 10pter)mat. The patient is trisomic for 10p except for a small segment near the centromere, and monosomic for the distal 10q26. A simple diagrammatic representation explains the behavior of the inv(10) in meiosis. The study of meiotic segregation in the present case, and the reviews of previously reported duplication-deficiencies, agree with established postulates and add some principles to the understanding of duplication deficiencies resulting from the meiotic behavior of inverted chromosomes.

Citing Articles

Familial pericentric inversion (10) and its effect on two offspring.

Rodriguez M, Martin M, Abrisqueta J J Med Genet. 1984; 21(4):317-9.

PMID: 6492099 PMC: 1049307. DOI: 10.1136/jmg.21.4.317.

Pericentric inversions. Problems and significance for clinical genetics.

Kaiser P Hum Genet. 1984; 68(1):1-47.

PMID: 6389316 DOI: 10.1007/BF00293869.

Pericentric inversions in man: personal experience and review of the literature.

Kleczkowska A, Fryns J, Van Den Berghe H Hum Genet. 1987; 75(4):333-8.

PMID: 3570287 DOI: 10.1007/BF00284103.

A case of two inversion (10) recombinants in a family.

Roberts P, Williams J, Sills M J Med Genet. 1989; 26(7):461-4.

PMID: 2746620 PMC: 1015652. DOI: 10.1136/jmg.26.7.461.

Trisomy 10p syndrome owing to maternal pericentric inversion.

Ohba K, Ohdo S, Sonoda T J Med Genet. 1990; 27(4):264-6.

PMID: 2182876 PMC: 1017032. DOI: 10.1136/jmg.27.4.264.

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