Abnormal myelination in a patient with deletion 14q11.2q13.1.
A male carrying an interstitial deletion of chromosome 14, presumably del(14)(q11.2q13), and presenting with abnormal myelination on magnetic resonance imaging is described. The abnormal myelination was evidenced as a high-signal intensity on T(2)-weighted magnetic resonance imaging. The patient had severe neurologic signs, various dysmorphic features, and a marked microcephaly. To our knowledge, this case is the first patient reported with abnormal myelination and a deletion of chromosome 14.
Ramelli
G P
GP
Department of Pediatrics, Ospedale San Giovanni, Bellinzona, Switzerland.
Remonda
L
L
Lövblad
K O
KO
Hirsiger
H
H
Moser
H
H
D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009186:Myelin Sheath / Q000235:genetics* / Q000502:physiology