BIOMAT Database Logo BIOMAT Database Logo

Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter. 1980

P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto

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.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002900 Chromosomes, Human, 1-3 The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3. Chromosomes A,Group A Chromosomes,Chromosome, Group A,Chromosomes, Group A,Group A Chromosome
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

Related Publications

P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
[Familial translocation 2; 17 with partial trisomy 2q32 to 2qter].
March 1981, La Pediatria,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
Familial partial trisomy: 6q25 leads to 6qter.
March 1980, Journal de genetique humaine,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
[7 cases of trisomy 2q34 leads to 2qter resulting from a familial t(2;8)(q34;23)].
March 1978, Annales de genetique,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
Partial trisomy 12q associated with a familial translocation.
July 1979, Clinical genetics,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
Partial trisomy 4q due to familial 2/4 translocation.
July 1976, Human genetics,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
Partial trisomy 7p associated with familial 7p;22q translocation.
August 1977, Journal of medical genetics,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
Trisomy for 8p21 leads to pter owing to a familial translocation.
February 1983, Journal of medical genetics,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
[Partial trisomy 10q24 leads to 10qter due to familial translocation (9;10) (p24;q24) recurring in 3 generations].
May 1983, Minerva pediatrica,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
Partial trisomy 14q due to familial t(14q-,11q+) translocation.
June 1977, Human genetics,
P Giliberti, and A Celona, and M Della Pietra, and R V De Masi, and G Fioretti, and L Pagano, and S Renda, and A Vetrella, and V Ventruto
[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)].
January 1980, Annales de genetique,
Copied contents to your clipboard!