A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were included. The total number recorded was 3020 and of these 2770 were examined cytologi...

Introduction Approximately 1 in 2,500 live female births is affected by Turner syndrome (TS), making it one of the more common genetic conditions encountered in pediatric practice. TS is caused by deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome. Multiple body systems can be affected to varying degrees, presenting both diagnostic and management challenges for t...

Thirty-four families with a child or fetus with Turner's syndrome were studied using a series of polymorphic DNA probes. Analysis of the origin of the normal X chromosome was possible in all cases. In 16 families with 45,X (four fetuses and 12 livebirths), the observed X was maternal in each case, indicating a preferential loss of the paternal sex chromosome at, or before, conception. In the re...

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half patients have classic form with a genotype 45,XO, one-fourth different mosaic forms, remaining structural abnormalities on X chromosome. Among abnormalities, isochromosome Xq. Females variants TS can present menarche, amenorrhea, infertility rather than manifestations TS. This study...

BACKGROUND Patients with oligoasthenoteratozoospermia (OAT) and normal karyotypes have an increased sperm aneuploidy rate. This may be due to an altered intratesticular environment that affects the chromosomal segregation mechanism(s). Alternatively, it may be due to a generalized meiotic and mitotic abnormality. In this case, patients with abnormal spermatogenesis should also have an increased...

suspected that intestinal ileus may also be associated with hypothermia. After rewarming to 37°C and in the presence of normal electrolytes, glucose, and acid/base status, the infant developed abdominal distension and bilious vomiting at 48 hours. At an exploratory operation the whole alimentary tract from stomach to sigmoid was found to be distended and no peristalsis was seen. After decompres...

I N 1959 LEJEUNE, GAUTHIER AND TURPIN’ reported the finding of 47 chromosomes, one more than the normal number, in the cells of children with mongolian idiocy ( Down’s syndrome ) . The extra chromosome, one of the small acrocentrics-prohablv number 21-has since been universally verified. Nowell and Hungerford,2 in 1960, showed that chronic granulocytic leukemia is also associated with an abnorm...