Full trisomy 22 in a malformed newborn female.
The authors describe a new case of full trisomy 22 in a malformed newborn female, who died shortly after birth. Pathologic findings include cardiac, vascular, renal, gastrointestinal, genital and cerebral malformations. The study of C-heteromorphisms shows a paternal origin of the aneuploidy (non-disjunction at meiosis II).
Feret
M A
MA
Servicio de Neonatología, Hospital SVS, Alicante, Spain.
Galán
F
F
Aguilar
M S
MS
Serrano
J L
JL
Cidras
M
M
Garcia
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy; D014781:Viscera / Q000002:abnormalities