Partial Trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13)

Overview

Journal Hum Genet

Specialty Genetics

Date 1979 Jul 18

PMID 478542

Citations 12

Authors

J P Fryns

C Parloir

H Van Den Berghe

Affiliations

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Abstract

A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.

Citing Articles

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.

Chen N, Zeng W, Luo Y, Dong M Mol Syndromol. 2024; 15(6):495-502.

PMID: 39634249 PMC: 11614436. DOI: 10.1159/000538979.

Genetic Analysis of 17q Terminal Partial Trisomy.

Zheng H, Zheng L, Huang Z, Li G, Tang D, Yang X Clin Case Rep. 2024; 12(12):e9611.

PMID: 39619310 PMC: 11605363. DOI: 10.1002/ccr3.9611.

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Coton J, Labalme A, Till M, Bussy G, Krifi Papoz S, Lesca G Clin Case Rep. 2018; 6(5):827-834.

PMID: 29744066 PMC: 5930267. DOI: 10.1002/ccr3.1450.

A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

Upadia J, Philips 3rd J, Robin N, Lose E, Mikhail F Clin Case Rep. 2018; 6(4):612-616.

PMID: 29636925 PMC: 5889218. DOI: 10.1002/ccr3.1298.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Probst F, James R, Burrage L, Rosenfeld J, Bohan T, Ward Melver C Orphanet J Rare Dis. 2015; 10:75.

PMID: 26070612 PMC: 4472615. DOI: 10.1186/s13023-015-0291-0.

References

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