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Article

A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result.

BMC medical genetics - 7 Nov 2019

Li Dan, Wang Yun, Zhao Nan, Chang Liang, Liu Ping, Tian Chan, Qiao Jie

Abstract excerpt

BACKGROUND: Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. CASE PRESENTATION: Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), has obtained 5 embryos by intracytoplasmic sperm injection (ICSI) after one cycle of in vitro fertility (IVF). After...

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Identifiers

PMID: 31699048
DOI: 10.1186/s12881-019-0897-5
PMCID: PMC6839220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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