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Article

[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].

Zeitschrift fur Kinder- und Jugendpsychiatrie - 1 Jun 1994

Stein A, Heilbronner H, Jungmann J

Abstract excerpt

This is a case report on a 19-year-old patient with the chromosome constellation 48, XYYY. The patient showed signs of dysmorphism, mental retardation and problems in psychosocial functioning. A literature review revealed that individuals with this karyotype have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance.

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Source

Identifiers

PMID: 8053267

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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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[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].PMID 8053267Read ↗

Rare sex chromosome variation 48, XXYY : An integrative reviewSemantic proximity Read ↗

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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.Semantic proximity Read ↗

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[Gonadal dysgenesis with karyotype 46 XY].Semantic proximity Read ↗

Klinefelter syndrome with 48, XXYY karyotype accompanied by diabetic keto-acidosis: a case report and literatures reviewSemantic proximity Read ↗

Clinical findings and phenotype in a toddler with 48,XXYY syndrome.Semantic proximity Read ↗

Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axisSemantic proximity Read ↗

[Trisomy 8 mosaicism: 46,XX/47,XX+8].Semantic proximity Read ↗

Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY.Semantic proximity Read ↗

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