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Article

Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.

Journal of human genetics - 1 Jan 2008

Shaw Sheng-Wen, Chen Chih-Ping, Cheng Po-Jen, Wang Tzu-Hao, Hou Jia-Woei, Lin Cheng-Tao, Chang Shuenn-Dhy, Hwa Hsiao-Lin, Lin Ju-Li, Chao An-Shine, Soong Yung-Kuei, Hsieh Fon-Jou

Abstract excerpt

Only 4% of Down syndrome (DS) cases have a Robertsonian translocation (ROB). The aim of this study was to define the possible breakage area in 21p where ROB occurs. We prospectively and consecutively collected ten cases ROB DS from three medical centers. Of the ten DS children, six were de novo (...

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Share to Adaptor Proteins, Vesicular Transport
Share to Antigens, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Breakage

Share to Chromosomes, Human, Pair 13

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Share to Chromosomes, Human, Pair 21

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Source

Identifiers

PMID: 18074101
DOI: 10.1007/s10038-007-0229-z

Genes

TPTE
SAMSN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18074101-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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