Mosaic—sometimes the extra chromosome is due to an incorrect cell division because of a random embryonic event; only some cells have the extra X chromosome; females with this form may have less severe symptoms. Complications of triple-X syndrome include work, school, social, and relationship pro...
Gustavson KH : Triple X syndrome deviation with mild symptoms. The majority goes undiagnosed. Lakartidningen 1999; 96: 5646–5647. CAS PubMed Google Scholar Jacobs PA : The incidence and etiology of sex chromosome abnormalities in man. Birth Defects Orig Artic Ser 1979; 15: 3–14. CAS Pub...
The patient's multiple obsessive-compulsive symptoms were responded partially with fluoxetine and adjunctive buspirone treatment, however, her overall psychological functions were much improved. With the literature reviews, the authors suggest the possibility that a certain type of sex chromosome aneuploidy ...
Triple X syndrome is random and unpreventable. Even if you have a triple X chromosome, it won't usually be passed down to your children. What Are the Symptoms of Triple X Syndrome? Many girls and women with triple X syndrome have mild symptoms or don’t experience any symptoms at all. ...
Triple A syndrome is a rare autosomal recessive disorder caused by mutations in the AAAS gene on chromosome 12q13. Its main clinical features are alacrima, achalasia, and adrenal insufficiency, with most patients also having neurological symptoms and autonomic dysfunction. The neurologic manifestations ...
A Localization of CNV alterations on MDD marker genes on chromosome 23. B Correlation study of the expression of 10 MDD marker genes (C) Correlation visualization plot of 10 MDD marker genes in TNBC disease. D Principal component analysis showing significant differences between MDD marker high-...
GSD Ia: glycogen storage disorder type Ia; UCCS: uncooked cornstarch and SMS: sweet manioc starch Full size image In case of hypoglycemia (blood glucose less than 3.88 mmol/L or 70 mg/dL) or symptoms of hypoglycemia, the fasting was discontinued immediately, and the participant received 10...
1 Gustavson KH: Triple X syndrome deviation with mild symptoms. The majority goes undiagnosed. Lakartidningen 1999; 96: 5646–5647. 2 Jacobs PA: The incidence and etiology of sex chromosome abnormalities in man. Birth Defects Orig Artic Ser 1979; 15: 3–14. 3 Robinson A, Linden MG, ...
Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Between 2006 and 2017, we evaluated six patients with a clinical diagnosis of TAS, based on the presence of at least two symptoms, usually adrenal insufficiency and a...
(English):The triple A syndrome is a complex and multisystemic autosomal recessive disease with the 3 main symptoms of adrenal insufficiency, alacrima, and achalasia accompanied by neurological impairment. Mutations in the AAAS gene on chromosome 12q13 are responsible for the disorder. AAAS encodes ...