Chromosomal Abnormalities

Chromosomal Abnormalities

  • Reading time:5 mins read

Chromosomal abnormalities are a very common cause of spontaneous miscarriage. Most commonly a child with a chromosomal abnormality will not survive to birth. However, there are many cases where the…

Continue Reading Chromosomal Abnormalities

Klinefelter’s Syndrome (47,XXY)

  • Reading time:1 mins read

This is the presence of an extra X chromosome in males to give (47,XXY).  Epidemiology 1 in 1000 male live births Clinical features Usually diagnosed in childhood when there is: Clumsyness Learning…

Continue Reading Klinefelter’s Syndrome (47,XXY)

Patterns of Disease Inheritance

  • Reading time:9 mins read

Introduction Mendelian inheritance is a term sometimes used to describe patterns of inheritance, based on the original ideas of dominant and recessive genes, first proposed by the Gregorian Monk Mendel.…

Continue Reading Patterns of Disease Inheritance

Turner’s Syndrome (45, X)

  • Reading time:2 mins read

Introduction In this condition there is only one X chromosome in the female. Epidemiology 95% of cases result in spontaneous miscarriage Present in 1 in 5000 Clinical features Vary widely…

Continue Reading Turner’s Syndrome (45, X)

XXX Females

  • Reading time:1 mins read

Approximately 0.1% of females have an extra X chromosome. It is likely that there will be no clinical features, however, some studies suggest that: intelligence is typically reduced by 10-20…

Continue Reading XXX Females

XYY Males

  • Reading time:1 mins read

Very similar to XXX in females. The incidence is again about 1 in 1000. They may have slightly reduced intellectual ability (10-20 IQ points), and a tendency for aggressive and…

Continue Reading XYY Males