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Your search keyword '"Gil-Benso, R."' showing total 5 results
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5 results on '"Gil-Benso, R."'

1. [Terminal 1q deletion by translocation t(1;20)pat, confirmed by in situ hybridization].

Author

López-Ginés C, Gil-Benso R, Gregori-Romero MA, Paredes-Cencillo C, Castelló-Pomares M, and Llombart-Bosch A

Subjects
Child, Preschool, Chromosome Aberrations diagnosis, Chromosome Disorders, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Syndrome, Chromosome Aberrations genetics, Chromosome Deletion, Chromosomes, Human, Pair 1 genetics, Chromosomes, Human, Pair 20 genetics, Translocation, Genetic genetics
Published
1998

2. [Ring chromosome 22. Description of a new case (1)].

Author

Gil Benso R, López Ginés C, Gregori Romero M, Galán Sánchez F, and Pellín Pérez A

Subjects
Adolescent, Chromosome Disorders, Dermatoglyphics, Humans, Intellectual Disability genetics, Karyotyping, Male, Abnormalities, Multiple genetics, Chromosome Aberrations genetics, Chromosomes, Human, 21-22 and Y, Ring Chromosomes
Published
1991

3. [Familial translocation t(3;22) detected in a carrier child with mental retardation and other abnormalities].

Author

Gregori Romero M, Gil Benso R, López Ginés C, Pellín Pérez A, and Barberá Guillem E

Subjects
Child, Chromosome Disorders, Genetic Carrier Screening, Humans, Male, Pedigree, Abnormalities, Multiple genetics, Chromosome Aberrations genetics, Chromosomes, Human, 1-3 ultrastructure, Chromosomes, Human, 21-22 and Y ultrastructure, Intellectual Disability genetics, Translocation, Genetic
Abstract

A case of familial translocation t(3;22) (q21;q13) detected through a boy carrier with various functional and phenotypical alterations is described. The caryotype study (G bands) showed that the mother, one maternal aunt, two maternal uncles, and the brother of the proband were likewise carriers of the same translocation. We discuss the type of segregation and the high familial incidence of the translocation.

Published
1984

4. [Chromosome anomalies found in a cytogenetic study of 750 healthy newborn infants].

Author

López Ginés C, Gil Benso R, Gregori Romero M, Galán Sánchez F, Andrés M, Castelló Pomares ML, Pellín Pérez A, Colomer Sala J, and Llombart Bosch A

Subjects
Chromosome Disorders, Female, Humans, Infant, Newborn, Karyotyping, Male, Chromosome Aberrations epidemiology, Infant, Newborn, Diseases genetics
Abstract

Cytogenetic studies on newborn infants show a high incidence in chromosomal abnormalities (0.5-1% of the population). Chromosomal study is carried out on 750 children from the University Hospital of Valencia over a two-year period, chosen at random and without any clinical pathology. Five gonosomopathies and three autosomopathies were found. In the former, three 47,XXY, one triple-X, and one isochromosome of long arms of chromosome X, were detected. In autosomal chromosomopathies, a Robertsonian translocation was seen between chromosomes 13 and 14, a reciprocal translocation between chromosomes 8 and 10, and an inversion of chromosome 3. Altogether eight cytogenetic anomalies appeared, a percentage slightly over one percent. Importance of early diagnosis of chromosomal abnormalities is discussed, with the aim of establishing adequate treatment when possible, and genetic counselling for the family.

Published
1987

5. [Familial translocation t(9;10) (q34;q22) discovered in a child with various phenotypic abnormalities].

Author

Gregori Romero M, López Ginés C, Gil Benso R, Gálan Sánchez F, Andrés Celma M, and Pellín Pérez A

Subjects
Dermatoglyphics, Humans, Infant, Male, Pedigree, Phenotype, Abnormalities, Multiple etiology, Chromosomes, Human, Pair 10 ultrastructure, Chromosomes, Human, Pair 9 ultrastructure, Face abnormalities, Hand Deformities, Congenital genetics, Translocation, Genetic
Published
1989

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