Human Chromosomes. An Illustrated Introduction to Human by Audrey Bishop, Patricia Cooke

By Audrey Bishop, Patricia Cooke

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Extra resources for Human Chromosomes. An Illustrated Introduction to Human Cytogenetics

Sample text

In instances where a structurally abnormal chromosome is present, in the X - 6 - 1 2 group, it may be identified as an X by this autoradiographic technique. 51 Fig. 6 . 4 a . This cell was supplied with tritiated thymidine for four hours before harvesting and the X is apparent as the most heavily labelled chromosome. 52 Fig. 6 . 4 b . The same cell after removal of the autoradiographic film. 53 The third interesting feature of the X chromosome is its genetic inactivity. It has now been shown that in the somatic cells of the female part of one of the X chromosomes is genetically inactive.

When an individual has one or more extra members of any pair of chromosomes it is said to be polysomic for that chromosome. Polysomy for the sex chromosomes has frequently been observed in man and one such example is the XXXY chromosome complement. This karyotype was found in an individual, showing some features of Klinefelter's syndrome, with t w o cell lines, one with an XXXXY and one with an XXXY sex chromosome complement. It is therefore probable that three successive non-misjunctions of an XY zygote have contributed to this abnormality (Fig.

Possible derivation of an XXXY cell line. The cell lines underlined in the diagram are those which were observed in this mosaic. 32 CO CA) Fig. 4 . 1 1 b . Karyotype demonstrating XXXY cell line w i t h 48 chromosomes and 17 in the X - 6 - 1 2 group. 7 XXYY (Fig. 12b). Both sex chromosomes may disjoin simultaneously or successively to give duplication of the sex chromosome complement. This karyotype was observed in a hermaphrodite who was shown to be a mosaic of XXYY and XX cells (Fig. 12a). As well as the illustrated example of an XXYY chromosome complement examples of an XXXX type have been reported.

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