Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX

Neonatal Unit, Department of Pediatrics, Tahar Sfar University Hospital, 5111 Mahdia, Tunisia.
Journal de Gynécologie Obstétrique et Biologie de la Reproduction (Impact Factor: 0.56). 09/2009; 38(7):599-603. DOI: 10.1016/j.jgyn.2009.08.003
Source: PubMed


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 to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

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    • "In the present case, the patient and her 3 children did not experience mental or physical problems. It is supposed that most affected women are not identified but that cases are often diagnosed incidentally due to the low detection rate of triple X fetuses in prenatal ultrasounds, as well as the mild and variable phenotypic expression of the disease [2,8,9]. Concerning this karyotype, various functional and structural genitourinary abnormalities have been reported. "
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    ABSTRACT: A 46-year-old female presented to the emergency room due to the chief complaint of left-sided weakness. By imaging study, she was diagnosed with cerebral infarction. Thrombolytic and antiplatelet agents were not considered due to the "golden hour" for treatment having passed and a low platelet count. The peripheral blood smear, bone marrow biopsy, and aspirate findings were consistent with immune thrombocytopenic purpura. The chromosome analysis revealed the 47,XXX karyotype. To the best of our knowledge, this is the first case report associated with the comorbidities of cerebral infarction, idiopathic thrombocytopenic purpura, and triple X syndrome.
    Full-text · Article · Jun 2014 · Turkish Journal of Haematology
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    • "The 47(XXX) karyotype has a frequency of one in 1000 female newborns, but this syndrome is not usually suspected at birth or childhood and is often diagnosed incidentally with prenatal diagnosis or following medical testing for infertility. Diagnosis is confirmed by karyotype analysis and the most common cause is lack of disjunction during maternal meiosis [2]. Patients with 47(XXX) syndrome do not usually present with major malformations, but rather subtle and highly variable clinical features such as high stature, poor motor coordination, language delay, and learning disabilities (often mild) [3]. "
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    ABSTRACT: To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.
    Full-text · Article · Nov 2011 · Journal of Medical Case Reports
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