The Triple-X Syndrome
نویسندگان
چکیده
منابع مشابه
Triple X syndrome.
Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Cli...
متن کاملTriple-x syndrome accompanied by congenital adrenal hyperplasia: case report.
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected...
متن کاملPrenatal diagnosis and prognosis of triple X syndrome: 47, XXX.
Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth t...
متن کاملTriple-X Syndrome in a Trisomic Down Syndrome Child: Both Aneuploidies Originated from the Mother
Here we report a case of double aneuploidy showing trisomy 21 and triple-X chromosome in a case of Down syndrome born to young non-consanguineous parents. The child presented with strabismus, periorbital swelling, scanty eyebrows and microganthia in addition to Down features. Molecular characterization has shown the maternal origin of double aneuploidy with trisomy 21 at meiosis-II and triple-X...
متن کاملTriple A syndrome.
Triple A syndrome (Allgrove syndrome) is an autosomal recessive disorder consisting of achalasia, alacrima and Addison insufficiency. We report an 11-year-old girl with predominant symptom of achalasia who was diagnosed as Triple A syndrome almost 3 years after initial presentation.
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ژورنال
عنوان ژورنال: BMJ
سال: 1961
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.2.5259.1046