Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

• Published in: The journal of clinical endocrinology and metabolism Vol. 92; no. 8; pp. 3305 - 3313
• Main Authors: Barbaro, Michela, Oscarson, Mikael, Schoumans, Jacqueline, Staaf, Johan, Ivarsson, Sten A., Wedell, Anna
• Format: Journal Article
• Language: English
• Published: Bethesda, MD Oxford University Press 01.08.2007; Endocrine Society
• Subjects: Adolescent; Adult; Artificial chromosomes; Bacterial artificial chromosomes; Biological and medical sciences; Cancer and Oncology; Cancer och onkologi; Chromosomes, Human, Pair 21 - genetics; Clinical Medicine; Computational Biology; Copy number; DAX-1 Orphan Nuclear Receptor; DAX1 gene; DNA - analysis; DNA - genetics; DNA-Binding Proteins - genetics; Dosage; Endocrinopathies; Feeding. Feeding behavior; Female; Fluorescence in situ hybridization; Fundamental and applied biological sciences. Psychology; Gene Amplification; Gene Dosage; Gene Duplication; Gene rearrangement; Genes; Gonadal dysgenesis; Gonadal Dysgenesis, 46,XY - genetics; Homologous recombination; Humans; In Situ Hybridization, Fluorescence; Intellectual disabilities; Karyotypes; Klinisk medicin; Medical and Health Sciences; Medical sciences; Medicin och hälsovetenskap; Nucleic Acid Hybridization; Oligonucleotide Array Sequence Analysis; Pediatrics; Pediatrik; Phenotype; Phenotypes; Phenotypic variations; Receptors, Retinoic Acid - genetics; Repressor Proteins - genetics; Reverse Transcriptase Polymerase Chain Reaction; Sensitivity analysis; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Vertebrates: endocrinology; Human; Obesity; Duplication; Nutrition; Nutrition disorder; Metabolic diseases; Sexual differentiation disorder; In vitro; Genital diseases; Dysgenesia gonad; Gene; Malformation; Genetics; Interstitial; Endocrinology; Nutritional status

Context: Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect. Chromosomal imbalances have been reported in several patients p...