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Related Experiment Video

Updated: May 3, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

[Turner-like syndrome: a case report].

M R Velletri¹, M Valenzise¹, M Wasniewska¹

¹Dipartimento di Pediatria, Università di Messina, Messina, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics

|February 13, 2014

Summary

This summary is machine-generated.

An 11-year-old girl with short stature and peculiar phenotype was diagnosed with Blackfan-Diamond anemia after initial tests excluded Turner syndrome. This rare genetic disorder affects red blood cell production.

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Last Updated: May 3, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Area of Science:

Pediatric Endocrinology
Hematology
Genetics

Background:

Short stature in prepubescent children necessitates comprehensive evaluation.
Differential diagnoses for short stature include genetic syndromes and endocrine disorders.
Turner syndrome is a common consideration in girls with short stature.

Observation:

An 11-year-old female presented with short stature and a distinctive phenotype.
Auxological assessment revealed atypical growth patterns.
Initial investigations included standard karyotyping to rule out chromosomal abnormalities.

Findings:

Standard karyotype results were normal, excluding Turner syndrome.
The patient exhibited anemia with a selective deficiency in the erythroid lineage.
Further diagnostic workup confirmed a diagnosis of Blackfan-Diamond anemia.

Implications:

Blackfan-Diamond anemia is a rare inherited bone marrow failure syndrome.
Early diagnosis is crucial for appropriate management and monitoring.
This case highlights the importance of considering hematological disorders in the evaluation of short stature.