• A case report of hypersomnia in tetrasomy X improved with medical therapy
• A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
• A Sri Lankan child with 48,XXXX syndrome
• Abnormal bone mineral content and density in people with tetrasomy 18p
• Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies
• Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
• Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making
• Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review
• Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst
• Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?
• Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing
• False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
• Female polysomy-X and systemic lupus erythematosus
• Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis
• Hemangioblastoma: clinicopathologic study of 42 cases with emphasis on TFE3 expression
• Molecular cytogenetic characterization of a case of primary amenorrhea with intrachromosomal triplication of the X chromosome q arm
• Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX
• Phonemic and Semantic Verbal Fluency in Sex Chromosome Aneuploidy: Contrasting the Effects of Supernumerary X versus Y Chromosomes on Performance
• Premature ovarian failure due to tetrasomy X in an adolescent girl
• Prenatal diagnosis of double trisomy 48, XXX, +18; case report
• Tetrasomy X in a Child with Upper Limb Deformity
• The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy
• The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study
• Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
• Unusual brain changes in tetrasomy x chromosomal anomaly
• Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up