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Article

Down-Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review.

Internal medicine (Tokyo, Japan) - 1 Jan 2012

Shen Zheng, Zou Chao Chun, Shang Shi Qiang, Jiang Ke Wen

Abstract excerpt

Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler...

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Identifiers

PMID: 22687844
DOI: 10.2169/internalmedicine.51.7097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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