Download PDF by John L. Hamerton (Auth.): Human Cytogenetics. Clinical Cytogenetics

By John L. Hamerton (Auth.)

ISBN-10: 012321002X

ISBN-13: 9780123210029

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Additional resources for Human Cytogenetics. Clinical Cytogenetics

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39 M A L E S W I T H M U L T I P L E SEX C H R O M A T I N M A S S E S Some Clinical Data o n 10 Males with 4 8 , X X X Y Chromosomes Paternal age (years) External genitalia GyneHair comastia 0 Reference Ρ ± 9 Court Brown et al, A - Maclean et al, + Ρ ± CÎ A± F - Court Brown et al, 1964a Maclean et al, 1 9 6 2 Penis and scrotum normal. Small testes. - P+cJ A+ F± Court Brown et al 1964a Maclean et al, 1962 34 Penis and scrotum normal. Small testes. - P+d A+ F± Court Brown et al, 1964a Maclean et al, 1 9 6 2 41 Penis and scrotum normal.

A. Stature I n c r e a s e in sex c h r o m o s o m e heterochromatin affects the m e a n stature of each group of subjects with a particular abnormal c h r o m o - IV. SEX C H R O M O S O M E H E T E R O C H R O M A T I N IN T H E MALE 57 Sexual development Physical abnormalities Reference Normal â None Leff and Scott, 1 9 6 8 Normal infantile 6 Radioulnar synostosis, clinodactyly, Down's syndrome 48,XYY,G+ Migeon, 1965 a ? Normal Normal Matthews and Brooks, 1968 Normal "Hard to manage"; no physical abnormality Borgaonkar et al, 1968 Normal Behavioral problems; no criminality.

T h i s d o e s not o c c u r until 3 0 - 4 0 d a y s ' gestation, and loss of the Y or o v e r g r o w t h of nullo-Y cells at this late stage seems less likely. It is, h o w e v e r , possible that the Y m a y exert its action m u c h earlier than this a n d its s u b s e q u e n t loss may then b e unimportant. F I G . 1-7. (a) Metaphase from chromatin-positive male with 4 6 , X X s e x c h r o m o s o m e s after H 3 - t h y m i d i n e labeling and autoradiography. N o t e single late replicating X chromos o m e .

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Human Cytogenetics. Clinical Cytogenetics by John L. Hamerton (Auth.)


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