Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant.
Vermeesch
J R
JR
Syrrou
M
M
Salden
I
I
Dhondt
F
F
Matthijs
G
G
Fryns
J-P
JP
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D019465:Craniofacial Abnormalities; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008831:Microcephaly / Q000473:pathology; D009030:Mosaicism / Q000235:genetics*; D011596:Psychomotor Disorders / Q000473:pathology