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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Chorea - Hereditary Benign * Osteogenisis Imperfecta * Polycystic Kidneys Clinodactyly Corneal Dystrophy * Polydactyly Ectodermal Dysplasia * Polyposis Coli (Peutz Syndrome) Porphyria * Ehlers - Danlos Syndrome Retinal Aplasia Englemann Disease ! 1 Dominantly inherited disorders. The more common ones are marked. 30 CLIN ICAL GENET ICS 1 d Affected Fig. 1 Possible outcome at fertilisation. One pair of chromosomes only shown in each parent. The affected parent carries the abnormal gene (black line) and manifests the disorder.

An ugly deformity by any standards. Usually severely retarded and fortunately most die early in life. INHERITANCE PATTERNS Fig. 24a Trisomy 8. Face normal. Some patients have an abnormal round facies with deep set eyes. 24a). As with other chromosomal anomalies there is usually mental retardation but the patients may have a fairly normal appearance. The wistful look is very characteristic. It has been recognised for many years that the incidence of Down's Syndrome increases with maternal age. It is thought this is related to the increasing risk of abnormalities of chromosomal division during meiosis.

Another important difference between male and female. The single darkly-staining body is a resting chromosome from a female who is chromatin positive. Males are usually chromatin negative. The other cell shows two chromatin bodies. This is from a female with X X X constitution. The XO female is chromatin negative. result of abnormal division of the chromosome during cell division. The X chromosome divides transversely instead of longitudinally at the centromere. This results in a long and short chromosome instead of two identical halves.

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


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