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Updated: Apr 7, 2026

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45,X/47,XXX Mosaicism and Short Stature.

Erica Everest1, Laurie A Tsilianidis2, Anzar Haider2

  • 1Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA ; Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA.

Case Reports in Pediatrics
|July 3, 2015
PubMed
Summary

A rare 45,X/47,XXX mosaic genotype in a child presented with short stature and kidney issues. This case highlights the unpredictable nature of mosaic chromosomal conditions and challenges in genetic counseling.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Mosaic chromosomal conditions, such as Turner syndrome (45,X) and Triple X syndrome (47,XXX), typically present with distinct phenotypes.
  • Mosaicism involving multiple cell lines can lead to variable clinical presentations, often milder than the typical presentations of the non-mosaic conditions.
  • Predicting the phenotype in mosaic chromosomal conditions remains challenging due to the wide spectrum of potential outcomes.

Purpose of the Study:

  • To report a unique case of a ten-year-old girl with a 45,X/47,XXX genotype.
  • To discuss the clinical presentation, including short stature and kidney dysfunction, in the context of this rare mosaic karyotype.
  • To highlight the challenges in predicting phenotypes and counseling families regarding mosaic chromosomal abnormalities.

Main Methods:

  • Case report detailing the clinical history, genetic analysis, and management of a pediatric patient.
  • Review of existing literature on 45,X/47,XXX mosaicism and related chromosomal conditions.
  • Phenotypic analysis comparing the patient's presentation to established characteristics of Turner and Triple X syndromes.

Main Results:

  • The patient presented with significant short stature and a 45,X/47,XXX karyotype, alongside a history of vesicoureteric reflux and kidney dysfunction.
  • Despite the mosaic genotype, the patient did not exhibit typical features of Turner syndrome or Triple X syndrome.
  • The patient's extreme short stature represents an atypical phenotype for this specific mosaic condition, contrasting with generally milder presentations reported for similar mosaics.

Conclusions:

  • The 45,X/47,XXX mosaic karyotype can result in a highly variable phenotype, including severe short stature not typically associated with milder mosaic presentations.
  • Phenotypic unpredictability in mosaic chromosomal conditions complicates accurate diagnosis and genetic counseling for affected families.
  • Further research is needed to better understand genotype-phenotype correlations in complex mosaic chromosomal disorders.