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Biomedical subjects

V Ventruto

Publications and source records attributed to V Ventruto.

90 records · Page 5Linked to original sources
PubMedDate not supplied

[A familial strain of amelogenesis imperfecta hypoplastic type with dominant x-linked heredity].

Hypoplastic amelogenesis imperfecta in members of four generations of a Campanian family is described. The females were affected to a lesser degree. A dominant X-linked mutation was apparently involved. The different forms of amelogenesis imperfecta are described in the light of their anatomical, clinical and radiological pictures and their transmission modalities. Suitable corrective treatment is required to offset the damage to masticatory function, and associated psychological and emotional consequences, especially in female subjects.

Adult↗
PubMedDate not supplied

[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?].

A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.

Abnormalities, Multiple↗
PubMedDate not supplied

[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)].

A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.

Blepharoptosis↗
PubMedDate not supplied

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Recent studies show a susceptibility locus (DFNB1) responsible for non-syndromic neurosensory autosomal-recessive deafness (NSRD) mapping to the pericentromeric region of chromosome 13q. In order to better understand the frequency with which DFNB1 is the gene for deafness in our patient population and the role of DFNB1 in Caucasians, we performed a genetic linkage study with four microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were of Italian and Spanish descent, respectively. A maximum two-point lod score of 7.28 was found with marker D13S115 at a recombination frequency of theta 0.1. Significant lod scores were also obtained for D13S143, D13S292 and D13S175. Genetic heterogeneity was confirmed using the HOMOG program which indicated absence of linkage to DFNB1 in approximately 21% of the sample. This study clearly demonstrates that DFNB1 plays an important role in 79% of Mediterranean families with NSRD. Furthermore, results from multipoint analysis predict that the DFNB1 gene maps between markers D13S175 and D13S115 which are separated by approximately 14.2 cM.

Chromosome Mapping↗