De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis.
In the present paper a malformed male newborn is presented with de novo 2q3 trisomy/distal 7p22 monosomy and typical clinical findings of 7p deletion syndrome including trigonocephaly.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D014314:Trisomy