[Trisomy 4q26--4qter by t(4;18)(q26;q23)mat translocation]. 1977

N Canki, and M Debevec, and S Rainer, and M O Rethoré

Partial trisomy 4q and perhaps monosomy 8qter was observed in a malformed girl, due to malsegregation of a t(4;18)(q26;q23)mat. Her phenotype was in agreement with the partial trisomy 4q syndrome, and she died 5 months after birth.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
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

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