Partial deletion of 4p16 band in a ring chromosome and wolf syndrome

Autor:	M. Luisa de Torres, J. del Mazo, J. A. Abrisqueta, M. José Martín, Amalia Pérez-Castillo, V. Aller, M. Angeles Martín Lucas
Rok vydání:	1978
Předmět:	Chromosome Aberrations Genetics Derivative chromosome Ring chromosome Infant Newborn Chromosome Chromosome Disorders Karyotype Biology Human genetics Karyotyping Humans Abnormalities Multiple Female Chromosomes Human 4-5 MULTIPLE MALFORMATIONS Wolf syndrome Genetics (clinical) X chromosome
Zdroj:	Human Genetics. 44:105-108
ISSN:	1432-1203 0340-6717
DOI:	10.1007/bf00283580
Popis:	A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5e1bed63817dff07781f74fb85d747 https://doi.org/10.1007/bf00283580 Zobrazit plný text záznamu Full text from SpringerLink