By J. S. Fitzsimmons (Auth.)
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Extra info for A Handbook of Clinical Genetics
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. The short arm is lost and the long arm, called an isochromosome, survives. There has been sufficient genetic material lost in this process to produce the features of Turner's Syndrome. Although the Y chromosome carries relatively little genetic information, in addition to the coded instruction necessary for 'maleness', it does have essential genes.
As with dominantly inherited disease the action of the gene is not an all-or-none phenomenon. In recessive disease the heterozygote carrier, although physically normal, may well manifest some biochemical evidence of the condition. Tay-Sachs disease is a good example and this disorder is seen most frequently in the Ashkenazic 36 CLINICAL GENETICS Affected Heterozygote Heterozygote Fig. 6 Mechanism of recessive inheritance. Both parents, clinically normal, carry the abnormal gene and are heterozygotes.
INHERITANCE PATTERNS HH ΙΐΙΐ UK KK • ·· · ΙίΙί Μ on KK KK 55 nn nri nil MM HH Fig. 25 Karyotype trisomy 8. This patient had in addition some cells with a normal karyotype and was therefore said to be a mosaic. His karyotype - 4 7 , X Y , + 8 / 4 6 , X Y . one daughter cell and none to the other daughter cell. This is seen in Fig. 26 and is referred to as non-disjunction. At fertilisation a sperm carrying a normal single N o . 2 1 chromosome fertilises the ovum containing two N o . 2 1 s and trisomy ensues.