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Biomedical subjects

V Ventruto

Publications and source records attributed to V Ventruto.

At least 55 records · Page 3Linked to original sources
PubMed1980

A and B postaxial polydactyly in two members of the same family.

Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and b types of postaxial polydactyly are caused by a single gene rather than by two different genes.

Adult↗
PubMed1980

Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter.

The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.

Abnormalities, Multiple↗
PubMed1980

Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter.

A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.

Chromosome Aberrations↗
PubMed1979

Synthesis of alpha, delta-beta and gamma chains by reticulocytes from two brothers homozygous for haemoglobin Lepore.

Globin chain synthesis has been investigated for the first time in 2 patients homozygous for haemoglobin Lepore, although the 2 brothers have the same haemoglobin genotype the severity of the diseases is very different. The purpose of this study was to try and find out the reason for the different severity in the clinical manifestations. In the 2 patients a different excess of alpha-chain synthesis was observed, the higher excess being present in the subject carrying the more severe anaemia. This result strongly suggests that in homozygous haemoglobin Lepore disease, as in beta-thalassaemia, the degree of globin chain imbalance is responsible for the clinical manifestations.

Adolescent↗
PubMed1977

Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.

A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46, XX/47, XX, +r(?). It was not possible to identify the origin of the extra ring chromosome. It is difficult to establish the role of such a cytogenetic finding in the aetiology of the syndrome.

Abnormalities, Multiple↗
PubMed1976

A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+).

A case of Kallmann's syndrome in a male is reported. Besides the classical picture of hypogonadotrophic hypogonadism (demonstrated both by endocrine investigation and a testicular biopsy) with anosmia, a number of other unusual features are present including gynaecomastia, agencies of the anterior brachial muscles, some dental abnormalities, and dyschromatopsy. The karyotype, studied on peripheral lymphocytes, shows, in the propositus as well as in his mother, the presence in all mitoses of an extra small metacentric chromosome; its derivation is uncertain.

Adult↗
PubMed1976

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.

Abnormalities, Multiple↗