The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(qh?,RHG,GAG,CBG)

Autor:	G. Bettini, Trabalza N, Armellini R, Gabriella Rosi, Emilio Donti, F. Pimpinelli, Virginia Bocchini, Venti G
Rok vydání:	1979
Předmět:	Chromosome Aberrations Chromosomes Human 6-12 and X Genetics Genetic Variation Infant Chromosome Karyotype Biology Chromosome Banding Phenotype Fragility Chromosomes Human 21-22 and Y Humans Female Growth Disorders Genetics (clinical) Chromosome 12
Zdroj:	Human Genetics. 48:53-59
ISSN:	1432-1203 0340-6717
DOI:	10.1007/bf00273274
Popis:	The constitutional fragility of chromosome no. 12 in a female infant with unspecific clinical signs is described. RHG, GAG, and CBG methods were used to localize the fragile point. The breaks seem to be in 12q1.3, and always within an R band. A possible correlation between the phenotypic modifications and the chromosome variant is discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38a7b8a9f9e0cfb5bee50a7b93cf594 https://doi.org/10.1007/bf00273274 Zobrazit plný text záznamu Full text from SpringerLink