Partial trisomy 14q. 1979

I Lopez Pajares, and A Delicado, and P V Cobos, and G Lledo, and A Peralta

A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24). Chromosome analysis of the parents was normal.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. 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
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
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

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