[Phenotypic consequences of chromosome abnormalities].
The incidence of chromosome anomalies in newborn infants is 0.7-0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.
Moreno García
M
M
Servicio de Genética, Hospital 12 de Octubre, Madrid, Spain. mmoreno.hdoc@salud.madrid.org
Fernández Martínez
F J
FJ
Barreiro Miranda
E
E
D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010641:Phenotype