De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances. 1979

A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu

An infant with a partial trisomy 18(pter yields q11:) is described. The patient's phenotype consists of many features of complete trisomy 18. The findings are compared with those from similar cases reported in the literature permitting to conclude that 18q121-q122 segment is the "critical" zone which when trisomic, causes the severe stigmata (inner organ malformations and early death) of the complete trisomy 18.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002902 Chromosomes, Human, 16-18 The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18. Chromosomes E,Group E Chromosomes,Chromosome, Group E,Chromosomes, Group E,E Chromosomes, Group,Group E Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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

Related Publications

A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
January 1981, Annales de genetique,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
January 1990, Human heredity,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
May 1979, Human genetics,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
January 2006, Genetic counseling (Geneva, Switzerland),
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
June 2010, The Korean journal of laboratory medicine,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
February 2001, American journal of medical genetics,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
January 2016, NPJ genomic medicine,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
January 2017, Clinical dysmorphology,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
January 2017, NPJ genomic medicine,
A Hernandez, and E Corona-Rivera, and L Plascencia, and Z Nazara, and B Ibarra, and J M Cantu
December 2005, Prenatal diagnosis,
Copied contents to your clipboard!