By John L. Hamerton (Auth.)
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Extra info for Human Cytogenetics. Clinical Cytogenetics
Cowie and Kahn, 1968. Small penis, n o pubic hair, small scrotum. Skeletal anomalies Kosenow and Pfeiffer, 1 9 6 7 56 1. 2 - 125 1/? 9 - 100 2/? 0 - 1Q 118 Down's syndrome 1/5 - prepubertal subjects the height percentile for age is given in brackets. ternatively, postzygotic nondisjunction in an X Y zygote would give 4 5 , X and 4 7 , X Y Y cell lines and such mosaics have been found. Either selection in favor of the 4 7 , X Y Y line or exclusion of the 4 5 , X line from the e m b r y o proper would result in an apparently " p u r e " 4 7 , X Y Y zygote.
External genitalia of three children with 4 9 , X X X X Y s e x c h r o m o s o m e s showing extreme hypogenitalism in each case: (a) Rugose thickening of scrotum, undescended testes, (b) small penis and scrotum with testes, and (c) small penis and poorly developed scrotum. (Reproduced by permission of (a) Dr. I. Wiekes, (b) Dr. M. Joseph, and (c) Dr. B. ) III. CHROMATIN-NEGATIVE MALES WITH T W O Y CHROMOSOMES 47 F I G . 1-12. (a) Normal testicular tissue (autopsy) from 6-month-old boy w h o died shortly after operation for umbilical hernia.
Anders et al (1968) found four out of five chromatin-positive schizophrenic males to be mixoploid (80%). 8%) were mixoploids. T h e s e were, however, studied at too early an age to assess their mental state and it cannot be stated how many will subsequently be mentally ill or have impaired mental ability. Tentatively it seems that "pure line" 4 7 , X X Y males have a higher risk of becoming mental defectives or having impaired intelligence than do the mixoploids; on the other hand, these perhaps have the same likelihood as the X X Y ' s of becoming psychotic.