Search

Your search keyword '"Cinti, R"' showing total 5 results
Start Over Author "Cinti, R" Journal clinical genetics
5 results on '"Cinti, R"'

4. A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs

Author

Daniela Concolino, G. Andria, D. Sperlì, Pietro Strisciuglio, R. Cinti, Concolino, D, Sperlì, D, Cinti, R, Strisciuglio, Pietro, and Andria, G.

Subjects
medicine.medical_treatment, Limb reduction, Phocomelia, Bone and Bones, Genetics, Humans, Medicine, Abnormalities, Multiple, natural sciences, Mild form, Roberts syndrome, health care economics and organizations, Genetics (clinical), Reduction (orthopedic surgery), Ultrasonography, Growth retardation, business.industry, Roberts-SC phocomelia syndrome, Infant, Syndrome, social sciences, Anatomy, medicine.disease, humanities, body regions, medicine.anatomical_structure, Arm, Upper limb, Female, business
Abstract

Roberts syndrome is a rare autosomal recessive condition characterized by growth retardation, cranio-facial abnormalities and symmetrical limb reduction of variable severity. Most patients with Roberts syndrome show a typical cytogenetic finding known as "Roberts syndrome effect". We describe a 4-month-old patient with a mild form of this syndrome, who presented with an asymmetrical reduction of the right upper limb.

Published
2008
Full Text
View/download PDF

5. The phenotype of a 45,X male with a Y/18 translocation.

Author

Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, and Pezzolo A

Subjects
Abnormalities, Multiple physiopathology, Child, Preschool, Dwarfism genetics, Dwarfism physiopathology, Face abnormalities, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Phenotype, Abnormalities, Multiple genetics, Chromosomes, Human, Pair 18, Translocation, Genetic, X Chromosome, Y Chromosome
Abstract

In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Yq11 and 18p11.2. Both Y and 18 centromeric alphoid sequences were identified on the derived 18 chromosome. Clinical features were compatible with 18p- syndrome and no Turner stigmata were present in our propositus. Short stature was likely to be related to the deletion of 18p and/or Yq, where a gene involved in stature determination has been located proximal to a gene involved in spermatogenesis (AZF).

Published
1996
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results