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Article

Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Sept 2009

Hur Mina, Cho Hyoun Chan, Lee Kyu Man, Park Hyokhan, Lee So Yeon, Kim Kwang Nam, Kim Sun Hee, Ki Chang Suk

Abstract excerpt

Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY[36]/46,XY[4]. To the best of our knowledge,...

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PMID: 19929089
DOI: 10.1597/07-149.1

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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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