The most common chromosome abnormality in first trimester spontaneous miscarriages is:
Trisomy, particularly trisomy 16, is the commonest chromosome cause of early miscarriage.
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Which of the following karyotypes is not compatible with survival to birth?
The human embryo cannot survive without an X chromosome.
The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?
The DiGeorge/Shprintzen syndrome is caused by a deletion in the long arm of chromosome 22(q11).
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Which of the following is not a chromosome instability syndrome?
c) Fanconi anaemia
a) Klinefelter syndrome
Klinefelter syndrome is caused by the presence of an additional X chromosome in a male i.e. 47,XXY.
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Which of the following trisomy karyotypes has the mildest effect on human development?
Women with a 47,XXX karyotype show normal physical development whereas men with a 47,XXY karyotype have small testes and are infertile.
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