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49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.
Acta Endocrinol (Buchar)
October 2024
State University of Londrina - Department of General Biology, Center for Biological Sciences, Londrina, Paraná.
Context: 49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment.
View Article and Find Full Text PDFY Chromosome Material in Turner Syndrome.
Cureus
November 2021
Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, TUR.
Background Turner Syndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads, primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y chromosome is present in 5% of patients, which is undetectable by the standard cytogenetic analysis.
View Article and Find Full Text PDFA Case of Early Diagnosis of Turner Syndrome in a Neonate.
Cureus
July 2021
Neonatology, Indus Hospital & Health Network, Karachi, PAK.
Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in approximately 1 in 2000 live birth. It occurs when the X chromosome is partially or completely missing in females caused by monosomy or structural abnormalities of the X chromosome. It is mainly diagnosed in late childhood or adolescent age and rarely identified during the neonatal period.
View Article and Find Full Text PDFInvestigation of maxillofacial morphology and oral characteristics with Turner syndrome and early mixed dentition.
Congenit Anom (Kyoto)
January 2019
Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Turner syndrome is associated with an X chromosome abnormality in women and is characterized by infantilism, congenital webbed neck, and cubitus valgus. The aim of this study was to determine the maxillofacial morphology and oral characteristics of Japanese girls (mean age, 8.5 years) with Turner syndrome and early mixed dentition.
View Article and Find Full Text PDFEpigenetics in Turner syndrome.
Clin Epigenetics
February 2019
2Pediatric Endocrine Unit, Hospital de Clínicas Caracas, Caracas, Venezuela.
Background: Monosomy of the X chromosome is the most frequent genetic abnormality in human as it is present in approximately 2% of all conceptions, although 99% of these embryos are spontaneously miscarried. In postnatal life, clinical features of Turner syndrome may include typical dysmorphic stigmata, short stature, sexual infantilism, and renal, cardiac, skeletal, endocrine and metabolic abnormalities.
Main Text: Turner syndrome is due to a partial or total loss of the second sexual chromosome, resulting in the development of highly variable clinical features.
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