Pericentric inversion inv(2) (p11.2q21) associated with Treacher Collins-Franceschetti syndrome.
Sawada
Hiroshi
H
Department of Pediatrics, National Hamada Hospital, Hamada, Japan. sawada@hamada.hosp.go.jp
Kawashima
Yuki
Y
Yamamoto
Yuko
Y
Egi
Toru
T
Nagata
Ikuo
I
Kanzaki
Susumu
S
D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008342:Mandibulofacial Dysostosis / Q000235:genetics*