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By J. S. Fitzsimmons (Auth.)

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Extra info for A Handbook of Clinical Genetics

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Fig. 30 Karyotype of boy with Klinefelter's Syndrome. 47, X X Y . The two X chromosomes and the male Y chromosome are bottom right. ttlf-K nil H 21 If 8Sf*8S U »* *i * #t B-ft » * « i s i F I §,j§ ^ | Fig. 31 Karyotype of boy with two Y chromosomes and one X chromosome. This young man looked angelic but attended the clinic with his probation officer. He had burned down his school and escaped to try again. Such antisocial behaviour is not a constant finding. INHERITANCE PATTERNS 61 on this disorder.

9 chromosome is now well established and the clinical features show the usual combination of mental retardation and various physical anomalies. As with the full trisomic syndromes it is theoretically possible to have partial trisomy of any of the autosomes, either of the short arm or of the long arm. INHERITANCE PATTERNS 57 Individual autosomes contain a large number of important and essential genes and loss of any one of the autosomes appears to be incompatible with survival. It is possible, however, to lose one X chromosome and survive.

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. M o s t of us like to have knowledge of our basic roots and most individuals attending a genetic counselling clinic can with encouragement produce extremely detailed, and on occasions, artistic pedigrees!

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