* This is the Professional Version. *
Other X Chromosome Anomalies
Patient Education
- Chromosome and Gene Anomalies
- Overview of Chromosomal Anomalies
- Down Syndrome (Trisomy 21)
- Trisomy 18
- Trisomy 13
- Chromosomal Deletion Syndromes
- Microdeletion Gene Syndromes
- Overview of Sex Chromosome Anomalies
- Turner Syndrome
- Klinefelter Syndrome (47,XXY)
- 47,XYY Syndrome
- Other X Chromosome Anomalies
- Fragile X Syndrome
About 1/1000 apparently normal females have a 47,XXX (trisomy X) karyotype. Physical anomalies are rare. Menstrual irregularity and infertility sometimes occur. Affected girls may have mildly impaired intellect and may have more school problems than siblings. Advanced maternal age increases risk of the triple X anomaly, and the extra X chromosome is usually maternally derived.
Although rare, 48,XXXX and 49,XXXXX females exist. There is no consistent phenotype. The risk of intellectual disability and congenital anomalies increases markedly when there are > 3 X chromosomes. The genetic imbalance in early embryonic life may cause anomalous development.
- Chromosome and Gene Anomalies
- Overview of Chromosomal Anomalies
- Down Syndrome (Trisomy 21)
- Trisomy 18
- Trisomy 13
- Chromosomal Deletion Syndromes
- Microdeletion Gene Syndromes
- Overview of Sex Chromosome Anomalies
- Turner Syndrome
- Klinefelter Syndrome (47,XXY)
- 47,XYY Syndrome
- Other X Chromosome Anomalies
- Fragile X Syndrome
* This is the Professional Version. *
Also of Interest
Test your knowledge
Growth hormone deficiency in children typically manifests as growth failure, sometimes along with delayed development of which of the following?
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