Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations.
Hernando
C
C
Plaja
A
A
Rigola
M A
MA
Pérez
M M
MM
Vendrell
T
T
Egocue
J
J
Fuster
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype