ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of copper-superoxide dismutase (SOD-1) which showed a 50% decrease. In situ hybridization with a probe previously assigned to chromosome 21 was used to rule out the possibility of a partial monosomy with an unbalanced reciprocal translocation.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00273852