Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.

Autor: González-Rodríguez MTA; Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Human Genetics Institute 'Dr. Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico., Brukman-Jiménez SA; Human Genetics Institute 'Dr. Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico., Cuero-Quezada I; Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Human Genetics Institute 'Dr. Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico., Corona-Rivera JR; Human Genetics Institute 'Dr. Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatrics Division, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico., Corona-Rivera A; Human Genetics Institute 'Dr. Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico., Serafín-Saucedo G; Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico., Aguirre-Salas LM; Service of Pediatric Endocrinology, Pediatrics Division, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico., Bobadilla-Morales L; Human Genetics Institute 'Dr. Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatrics Division, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.
Jazyk: angličtina
Zdroj: Genes [Genes (Basel)] 2023 Jan 18; Vol. 14 (2). Date of Electronic Publication: 2023 Jan 18.
DOI: 10.3390/genes14020253
Abstrakt: Turner Syndrome is characterized by a normal X chromosome and the partial or complete absence of a second sexual chromosome. Small supernumerary marker chromosomes are present in 6.6% of these patients. Because of the wide range of Turner syndrome karyotypes, it is difficult to establish a relationship with the phenotype of the patients. We present the case of a female patient with Turner syndrome, insulin resistance, type 2 diabetes, and intellectual disability. The karyotype revealed the presence of mosaicism with a monosomy X cell line and a second line with a small marker chromosome. FISH of two different tissues was used to identify the marker chromosome with probes for X and Y centromeres. Both tissues presented mosaicism for a two X chromosome signal, differing in the percentage of the monosomy X cell percentage. Comparative genomic hybridization with the CytoScan TM HD assay was performed in genomic DNA from peripheral blood, allowing us to determine the size and breakage points of the small marker chromosome. The patient presents a phenotype that combines classic Turner syndrome features and unlikely ones as intellectual disability. The size, implicated genes, and degree of inactivation of the X chromosome influence the broad spectrum of phenotypes resulting from these chromosomes.
Databáze: MEDLINE
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