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1.
Eur J Hum Genet ; 1(4): 325-34, 1993.
Article in English | MEDLINE | ID: mdl-8081946

ABSTRACT

In situ hybridisation technology provides a new tool for chromosome analysis of human spermatozoa. We have used dual-colour fluorescence in situ with probes specific for the X and Y chromosomes and chromosomes 1 and 12 to (a) identify the primary male gametic sex chromosome ratio; (b) assess the number of numerical sex chromosome abnormalities, and (c) quantify the incidence of diploid sperm. We have examined over 60,000 sperm from three normal males and found the primary sex ratio to be indistinguishable from unity. The frequency of hyperhaploid sperm was 0.8, 1.03 and 2.27 per thousand for XX, YY and XY respectively, whilst 1.67 per thousand sperm were diploid. A comparison of our results with estimates of sex chromosome aneuploidy in human populations suggests that sperm carrying two sex chromosomes may be at a selective disadvantage.


Subject(s)
Aneuploidy , Diploidy , Sex Chromosomes , Sex Ratio , Spermatozoa , Adult , Chromosome Aberrations , Humans , In Situ Hybridization, Fluorescence , Male
8.
Article in Russian | MEDLINE | ID: mdl-899465

ABSTRACT

The authors studied 4 patients with acute disturbances of cerebral venous circulation. In 2 cases the diagnosis was verified by carotid angiography and sinusography, in 2 cases--by autopsy. The authors consider that for diagnostical purposes of paramount importance is the anamnesis which in some cases permits to reveal in the past thrombophlebits with different localization, an appearance of the first symptoms after delivery. Cerebral venous thrombosis is characterized by a polymorphism of neurological symptoms, their migration and multifocal localization. In some cases convulsive syndromes were observed and in half of the cases engorged popilla on the eye ground. Of special importance are the x-ray contrast methods and first of all carotid angiography which helps to eliminate a newgrowth of the brain and to detect thrombosis of the cerebral veins.


Subject(s)
Cranial Sinuses , Intracranial Embolism and Thrombosis/diagnosis , Thrombophlebitis/diagnosis , Acute Disease , Adolescent , Adult , Cerebral Angiography , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Phlebography , Pregnancy , Puerperal Disorders/diagnosis
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