February 10, 2018

A Handbook of Clinical Genetics by J. S. Fitzsimmons (Auth.) PDF

By J. S. Fitzsimmons (Auth.)

ISBN-10: 0433105305

ISBN-13: 9780433105305

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26 CLINICAL GENETICS α α SIBS Ο D Ο D 1st C O U S I N S — 1st COUSINS — ONCE REMOVED 2nd COUSINS 2nd COUSINS ONCE REMOVED 0 3rd COUSINS D Ο Q Ό • Fig. 4 Relationships. Helps to explain the problem of the second cousin once removed! attention will be paid to taking a proper family history. The identification and selection of families with hereditary disease is referred to as ascertainment. M a n y members of the public show a considerable interest in their family background and geneology is a popular pastime in many countries.

It is seen in a higher percentage of cells in the female than in the male and females are usually reported as chromatin positive and males as chromatin negative. The inactivation of one of the X chromosomes occurs after there has been a period of cell division in the very early zygote. There will therefore be generations of cells with two active X chromosomes and these will continue to produce daughter cells. When inactivation occurs, however, one chromosome will form the resting Barr body and not influence cellular activity.

Each daughter with 2 X chromosomes has a 50/50 chance of inheriting the gene. Each son with no protecting normal allele has 50/50 chance of the disease. C 42 CLINICAL GENETIC XX XX Carrier XY XX Normal XY Normal / Y Affected Fig. 11 Recessive gene r on X-chromosome produces disease in the hemizygous male. 50/50 chance of carrier female. of being a carrier like mother. Because it is the X chromosome which carries the abnormal gene an affected male can never transfer the disease to his sons but all his daughters will be carriers.

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A Handbook of Clinical Genetics by J. S. Fitzsimmons (Auth.)


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