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Biomedical subjects

G Pescia

Publications and source records attributed to G Pescia.

At least 109 records · Page 6Linked to original sources
PubMed1978

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.

A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.

Adolescent↗
PubMed1978

Prepubertal XX male with profound physical and mental deficiency, retinitis pigmentosa and multiple congenital anomalies.

A unique case of a prepubertal XX male with profound mental and physical retardation, retinitis pigmentosa, ambiguous genitalia and multiple congenital anomalies is reported. His clinical, genetic, dermatoglyphic and histological findings are presented. This case could represent a new multiple congenital malformation syndrome. Theories on XX male aetiology are briefly discussed.

Abnormalities, Multiple↗
PubMed1977

[Three families with pericentric inversion of chromosome 9].

The authors describe three unrelated families who had a pericentric inversion of chromosome 9. Three female patients and 9 out of 16 members of their families were heterozygous carriers of the same chromosomal recombination. This anomaly has been found with a frequency of about 1% in our laboratory. The different clinical and cytogenetic implications are briefly discussed.

Adolescent↗
PubMed1976

[The importance of biomicroscopic examination of the lens in the detection of heterozygotes for certain hereditary diseases, in particular, myotonic dystrophy].

Slit-lamp examination of the lens of 80 normal controls aged between 17 and 36 years has shown that the opacities are very common (91.5%). The total opacities count (TOC) varies between 0 and 109, with a mean value of 14.65 and a standard deviation of 18.43. The study of 10 families of myotonic dystrophy supports the value of such a test in early diagnosis of this condition. The value of the TOC in carrier detection of Lowe's syndrome and in the diagnosis of "formes frustes" of hereditary cataract is discussed. The possible application of this test in genetic counselling is stressed.

Adolescent↗
PubMed1976

[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)].

We have reported the study of a young girl aged 19 suffering from a gonadal dysgenesis the chromosomal complement of which is 45,X/46,XXp-. The analysis of the transmission of Xg group was insufficient to demonstrate with certainty the origin of the pathological X. The tests indicating the ability to discriminate colours (Ishihara's test and anomaloscopy) showed a protanopia, probably of paternal origin. Hence, the Xp- probably comes from the mother.

Adult↗
PubMed1975

45,X Turner's syndrome in monozygotic twin sisters.

A 7-year-old girl was admitted to the hospital for anaemia, secondary to intestinal blood los (melaena). She was found to have 45,X Turner's syndrome. Her identical twin sister also had Turner's syndrome with a 45,X chromosome complement. According to various criteria the probability of monozygosity was 0.9905. Although the incidence of twinning is greater than usual in families of patients with Turner's syndrome, affected cases have only been observed in twin sisters on six occasions. It seems therefore that the 45,X chromosome complement itself is not a factor predisposing to twinning, but that in some families, a factor is at play, which cuases either twinning or the 45,X aneuploidy, or both.

Aneuploidy↗