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1/15. sex-linked hydrocephalus.

    A Danish family with seven males with hydrocephalus in three generations is described. Frequent findings in this x-linked recessive form of the disease are irregular cranium, asymmetrical face, thumb held across palm, spasticity of the legs and paradoxical plantar responses. The literature on this mode of inheritance is reviewed.
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keywords = x-linked
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2/15. X-linked spastic paraplegia.

    This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia. The disease was characterized by hyperreflexia, progressive spastic gait disorder, extensor plantar responses and mental retardation in all of the affected members of the family we studied. In addition to these symptoms, the older patients had cerebellar findings, severe disability and contractures. This is the 13th family manifesting x-linked spastic paraplegia reported in the literature.
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ranking = 0.4
keywords = x-linked
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3/15. Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia.

    Paralytic poliomyelitis was observed in a child with a sex-linked defect in immunoglobulin synthesis. Evidence is presented that this was secondary to administration of oral, live poliovaccine. The demonstration of a familial sex-linked gammaglobulin deficiency and the failure to document a defect in cell-mediated immunity in this child extends the risk of vaccine associated poliomyelitis to virtually all forms of immunodeficiency. The critical host factors in the pathogenesis of poliovirus vaccine infection and in particular its unfavorable outcome appear to include either a deficiency in the humoral (B cell) system or in the cell-mediated (T cell) system.
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ranking = 1.2
keywords = x-linked
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4/15. adrenoleukodystrophy: heterogeneity in two brothers.

    A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.
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ranking = 0.2
keywords = x-linked
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5/15. sex-linked recessive congenital ataxia.

    A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked cerebellar ataxia.
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ranking = 1
keywords = x-linked
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6/15. Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.

    Lymphocyte phosphorylase kinase activities were measured in normal controls and in patients with the sex-linked form of liver phosphorylase kinase deficiency. The reaction due to phosphorylase kinase activity in normal lymphocytes (2.7 X 10(6) in the reaction tube) was found to be linear within 20-60 min at 30 degrees C. The reaction was directly proportional to the concentration of lymphocytes within 1.5 X 10(6)-9.0 X 10(6), at 30 degrees C for 60 min. The phosphorylase kinase activity in normal lymphocytes, which were pre-incubated at 50 degrees C or 95 degrees C for 1 min, decreased to 60% at 50 degrees C and 10% at 95 degrees C of that after pre-incubation at 0 degree C for 1 min. The activity of normal controls was 125 /- 23.5 U/10(10) lymphocytes. Those of the patients with liver phosphorylase kinase deficiency due to the sex-linked form were 43.5 U in case 1, 54.5 U in case 2, and 51.3 U in case 3, respectively and those of the mothers were within the normal range. These results suggest that phosphorylase kinase in lymphocytes might be form intermediate between liver and muscle phosphorylase kinase.
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ranking = 1.2
keywords = x-linked
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7/15. A case of sex-linked juvenile retinoschisis with peripheral vascular anomalies.

    A 26-year-old man with sex-linked juvenile central and peripheral retinoschisis showed on fluorescein angiography an avascular lower temporal periphery, bordered at the central side by abnormal capillaries in a dendrite-like structure. In dominant exudative vitreoretinopathy an identical picture without schisis can be seen in the periphery. This feature seems to be a rare phenomenon in sex-linked juvenile retinoschisis. However, routine peripheral ophthalmoscopy and fluorescein angiography (especially inferotemporal) may reveal more cases.
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ranking = 1.2
keywords = x-linked
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8/15. Familial occurrence of omphalocele suggesting sex-linked inheritance.

    A family is described in which 4 males in two generations had omphalocele. There was no case of omphalocele in any of the women. It is suggested that the mode of inheritance could be a sex-linked recessive trait.
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ranking = 1
keywords = x-linked
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9/15. Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon?

    Two cases of x-linked hydrocephalus are reported. One underwent postmortem examination: serial sections of the brain stem failed to show stenosis of the aqueduct, the mean and minimal cross-sectional areas of which were normal. However, there were some morphological changes which were compatible with a mechanical compression of the brain stem. It is postulated that in the Bickers and Adams syndrome of x-linked hereditary hydrocephalus the primary defect is a communicating hydrocephalus leading usually, but not always, to aqueductal stenosis. The importance of electrophysiological investigations for the correct diagnosis of the characteristic clasped-thumb deformity is also indicated.
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ranking = 0.4
keywords = x-linked
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10/15. sex-linked pigmentary retinopathy (P.R.).

    The silently affected female relatives of a patient severely affected by pigmentary retinopathy may show on ophthalmoscopy a sector with pigmentary retinopathy and disturbed functional examinations; the risk factors to suggest X linked disease are described. In our case the mother appeared a heterozygote for sex linked P.R.
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ranking = 0.8
keywords = x-linked
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