By Helen M. Kingston
This ABC is a concise, hugely illustrated creation to genetic mechanisms curious about inherited problems. the recent variation has been generally up to date with new and revised chapters to surround fast advances within the box. simple genetic suggestions are defined in addition to the appliance of recent applied sciences in scientific perform. details on appropriate sites also are integrated in addition to suggested texts for additional interpreting.
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This ABC is a concise, hugely illustrated creation to genetic mechanisms concerned with inherited issues. the recent version has been commonly up to date with new and revised chapters to surround swift advances within the box. easy genetic options are defined in addition to the appliance of recent applied sciences in scientific perform.
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Additional info for ABC of Clinical Genetics, 3rd Edition
Neonatal blood sample showed normal karyotype 21 21 Translocations Robertsonian translocations Robertsonian translocations occur when two of the acrocentric chromosomes (13, 14, 15, 21, or 22) become joined together. Balanced translocation carriers have 45 chromosomes but no significant loss of overall chromosomal material and they are almost always healthy. In unbalanced translocation karyotypes there are 46 chromosomes with trisomy for one of the chromosomes involved in the translocation. This may lead to spontaneous miscarriage (chromosomes 14, 15, and 22) or liveborn infants with trisomy (chromosomes 13 and 21).
In others the mutation will be present in some somatic cells as well. In disorders with cutaneous manifestations, such as NF1, this may lead to segmental or patchy involvement of the skin. In either case, there will be a considerable risk of recurrence in future children. A dominant disorder in a person with a negative family history may alternatively indicate non-paternity. Homozygosity Homozygosity for dominant genes is uncommon, occurring only when two people with the same disorder have children together.
The primary feature of the syndrome is hypogonadism. Pubertal development usually starts spontaneously, but testicular size decreases from mid-puberty and hypogonadism develops. Testosterone replacement is usually required and affected males are infertile. Poor facial hair growth is an almost constant finding. Tall stature is usual and gynaecomastia may occur. The risk of cancer of the breast is increased compared to XY males. Intelligence is generally within the normal range but may be 10–15 points lower than siblings.