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Last Updated: 10/31/2025

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Found 34 publications

A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy.

A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy.

Journal: Medical journal of the Islamic Republic of Iran
Published: April 18, 2023

Oral manifestation in a pediatric patient with pentasomy x. A case report.

Oral manifestation in a pediatric patient with pentasomy x. A case report.

Journal: Revista cientifica odontologica (Universidad Cientifica del Sur)
Published: January 10, 2023

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.

Journal: Diagnostics (Basel, Switzerland)
Published: April 29, 2022

Report of a New Case of Pentasomy X Revealed by Status Epilepticus.

Report of a New Case of Pentasomy X Revealed by Status Epilepticus.

Journal: Cureus
Published: June 30, 2021

DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.

DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.

Journal: Clinical epigenetics
Published: April 01, 2021

Speech and language development in children with 49,XXXXY syndrome.

Speech and language development in children with 49,XXXXY syndrome.

Journal: American journal of medical genetics. Part A
Published: November 27, 2019

Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts.

Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts.

Journal: Medicine
Published: October 03, 2019

The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study.

The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study.

Journal: Journal of gynecology obstetrics and human reproduction
Published: March 08, 2019

MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME.

MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME.

Journal: Retinal cases & brief reports
Published: September 13, 2016

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

Journal: Clinical case reports
Published: April 29, 2016

Report of a new case with pentasomy X and novel clinical findings.

Report of a new case with pentasomy X and novel clinical findings.

Journal: Balkan journal of medical genetics : BJMG
Published: March 02, 2016

The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy.

The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy.

Journal: Journal of multidisciplinary healthcare
Published: August 01, 2015
Showing 1-12 of 34

Last Updated: 10/31/2025