A fertile woman with non-mosaic Turner's syndrome:a case report and review of the literature

Article Abstract:

Turner's syndrome is a genetic disorder caused by a missing X chromosome (females normally have a 46,XX configuration). The disorder is characterized by abnormal development of reproductive organs, short stature, neck webbing, short metacarpals (bones in the hand), and heart problems. Other features of Turner's syndrome are underdeveloped breasts, ovaries and vagina. A subtype of Turner's syndrome patients have a mosaic chromosomal configuration, which results when cells that are derived from a single fertilized egg develop into two or more cell populations. A 24-year-old pregnant women 53 inches tall and weighing 118 pounds was referred for medical evaluation because of short stature, neck webbing, low hair line, and bone abnormalities. Breast development was normal and regular periods began at 14 years of age. Although women with Turner's syndrome are generally infertile, cell culture tests revealed a 45,X chromosomal configuration and Turner's syndrome was diagnosed. Except for a slightly abnormal placenta position, the pregnancy proceeded normally and a cesarean section was performed two weeks before term. A normal 46,XY male infant was delivered. When cell samples were removed from the skin, internal organ layer, and ovaries, a 45,X configuration was revealed, ruling out mosaicism in this patient. A subsequent pregnancy also resulted in a normal 46, XY male infant. A review of the literature found 21 pregnancies in 13 non-mosaic women with Turner's syndrome. The results were: 14 normal infants, one stillborn, one with Down's syndrome, and one with another congenital malformation. Five other pregnancies ended in miscarriage. In another study, out of 97 pregnancies in women with mosaicism, 32 ended in miscarriage, nine in stillbirths (three with congenital abnormalities), 13 live infants with congenital abnormalities were born, three had Down's syndrome, and six infants were born with 45,X mosaic Turner's syndrome. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Evaluation, Genetic aspects, Fertility, Turner syndrome, Sex chromosome abnormalities

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The prevalence and patterns of care of Huntington's Chorea in Grampian

Article Abstract:

Huntington's chorea is an inherited neurological disorder characterized by progressive involuntary spasmodic movements (chorea) and cognitive and emotional impairment. The disease usually manifests at 30 to 40 years of age. A change in personality is often the first sign. Psychosis or dementia can develop months or years later. As the disease progresses, hospital care is likely, with an average stay of seven years until death. There is no known cure. To assess the prevalence of Huntington's chorea in the Grampian region of Scotland, genetic, hospital, and general practitioner records in the survey area were assessed. Twenty male and 26 female Huntington's patients were living at the time of assessment, representing a prevalence rate of 9.4 per 100,000. A total of 98 relatives at risk were found. Since many of the relatives could have been presymptomatic, true prevalence rates were probably much higher. In seven patients, the diagnosis had been made before age 35. Twenty-three patients became symptomatic after age 55. This suggests a broader range of onset age than is usually reported. Forty-two patients had a known family history of Huntington's chorea. The other five either had a parent who committed suicide or a parent with an undiagnosed movement or psychiatric disorder. Recent advances in gene technology have made it possible to identify those likely to inherit the disorder before the appearance of symptoms. Presymptomatic diagnosis has drastic implications and requires support and counseling. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Scotland, Genetic disorders

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Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent

Article Abstract:

Huntington's disease (HD) is inherited as an autosomal (any chromosome other than a sex chromosome) dominant trait and usually occurs when patients are between 30 and 50 years of age. It is a progressive degenerative disorder that affects thinking, emotions and physical movements. HD most often leads to psychosis, dementia and death. Prevalence rates among whites have been cited as being between 16 and 92 per million, and rates for populations of predominantly European origin have been reported to be between 22 to 84 per million. HD has been reported among different ethnic groups worldwide. In order to assess the prevalence of HD among UK immigrants from the Indian subcontinent (Pakistan, Punjab, Gujerat and Bangladesh), hospital records, and records from genetic centers and other national institutions were evaluated. In 1988, 17 immigrants from Pakistan, Punjab, and Gujerat living in the UK were known to have HD. Another three had died in the UK between 1985 to 1987. The average age of illness onset for this group was 44 years, and clinical manifestations of the illness were very similar to those found in Caucasian British HD patients. Since there are 1.26 million persons from the Indian subcontinent living in the UK, the 17 identified HD cases, plus the three deceased cases, indicate a rough prevalence estimate of 15.9 per million. Although immigrants from Bangladesh constitute 10 percent of the UK Indian population, no cases of HD were found among them. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, United Kingdom, Immigrants, Emigration and immigration, Great Britain, Asia, Southern

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