Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
Vermeesch
J R
JR
Thoelen
R
R
Salden
I
I
Raes
M
M
Matthijs
G
G
Fryns
J-P
JP
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005764:Gastroesophageal Reflux / Q000175:diagnosis / Q000235:genetics; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008540:Meiosis / Q000235:genetics*; D009030:Mosaicism / Q000175:diagnosis / Q000235:genetics*; D018035:Receptors, Odorant / Q000235:genetics*
D018035:Receptors, Odorant