A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome.
Martinoli
Emanuela
E
Zuccotti
Gian Vincenzo
GV
Pogliani
Laura
L
Volontè
Marinella
M
Venturin
Marco
M
Fortina
Paolo
P
Ertel
Adam
A
Redaelli
Serena
S
Riva
Paola
P
Dalprà
Leda
L
D020029:Base Pairing / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D011247:Pregnancy