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Article

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.

European journal of medical genetics - 1 Jan 2000

Rittinger Olaf, Kronberger Gabriela, Pfeifenberger Andrea, Kotzot Dieter, Fauth Christine

Abstract excerpt

Diploid/triploid mosaicism is a rare chromosome aberration characterized by growth and mental retardation, muscular hypotonia, clinodactyly, syndactyly of fingers and toes, asymmetry of the body and the face, truncal obesity, and pigmentary anomalies of the skin. Many patients initially present with severe growth retardation and develop truncal obesity later in life. Variable phenotype expression during...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18706534
DOI: 10.1016/j.ejmg.2008.07.004

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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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