[Genetic diagnosis of the hypotonic newborn].
Assessment of hypotonic newborn babies implies not only neurological studies, but; also new methods of molecular genetics, to reach a diagnosis of the aetiology. The Prader-Willi, Werdnig-Hoffmann and Myotonic Dystrophy syndromes are three conditions with neurological symptoms which have recently been defined at a molecular level.
Bauer
M S
MS
División de Genètica, Miami Children's Hospital, Florida 33155, USA.
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D002888:Chromosomes, Human, Pair 19; D002895:Chromosomes, Human, Pair 5; D005784:Gene Amplification; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D009223:Myotonic Dystrophy / Q000209:etiology / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000209:etiology / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000209:etiology / Q000235:genetics*