Aberrations Of Sex Chromosomes

Although rare, cases with a 48, XXXX and 49, XXXXX karyotype have already been described. The phenotype is not uniform. The risk of mental retardation and congenital abnormalities increases with the number of chromosomes significantly, especially if there are ‘third The genetic imbalance in early embryonic life can cause pathological development.

Approximately 1 in 1,000 apparently normal women have a 47, XXX (trisomy X) karyotype. Physical abnormalities are rare. Menstrual irregularities and infertility occur sometimes. The affected girls have low mental retardation and may have more problems at school than their siblings. The risk of XXX anomaly increases with maternal age. The extra X chromosomes are usually maternal origin. Although rare, cases with a 48, XXXX and 49, XXXXX karyotype have already been described. The phenotype is not uniform. The risk of mental retardation and congenital abnormalities increases with the number of chromosomes significantly, especially if there are ‘third The genetic imbalance in early embryonic life can cause pathological development.

Health Life Media Team

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