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Analysis of genetic etiology of a female with 47,XXY syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 102-105, 2017.
Article in Chinese | WPRIM | ID: wpr-335173
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause of a female case with intellectual development disorder.</p><p><b>METHODS</b>G banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene.</p><p><b>RESULTS</b>The karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.</p><p><b>CONCLUSION</b>The female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome. This is the first report of 47,XXY female case with deletion of the SRY gene in China.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Review Literature as Topic / Base Sequence / Sequence Homology, Nucleic Acid / Polymerase Chain Reaction / Chromosome Banding / Sequence Deletion / Sequence Analysis, DNA / Genes, sry / Chromosomes, Human, Y / Karyotype Type of study: Etiology study Limits: Female / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2017 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Review Literature as Topic / Base Sequence / Sequence Homology, Nucleic Acid / Polymerase Chain Reaction / Chromosome Banding / Sequence Deletion / Sequence Analysis, DNA / Genes, sry / Chromosomes, Human, Y / Karyotype Type of study: Etiology study Limits: Female / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2017 Type: Article