Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.
Barbi
G
G
Abteilung Humangenetik, Universitätsklinikum Ulm, D-89073 Ulm, Germany.
Rossier
E
E
Vossbeck
S
S
Hummler
H
H
Lang
D
D
Flock
F
F
Terinde
R
R
Wirth
J
J
Vogel
W
W
Kehrer-Sawatzki
H
H
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007223:Infant; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013001:Somatoform Disorders / Q000000981:diagnostic imaging; D014463:Ultrasonography