Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).
We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.
Fujita
Y
Y
Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
Mochizuki
D
D
Mori
Y
Y
Nakamoto
N
N
Kobayashi
M
M
Omi
K
K
Kodama
H
H
Yanagawa
Y
Y
Abe
T
T
Tsuzuku
T
T
Yamanouchi
Y
Y
Takano
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D003051:Cochlea / Q000002:abnormalities; D003638:Deafness / Q000151:congenital; D005260:Female; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D009186:Myelin Sheath / Q000473:pathology; D014722:Vestibule, Labyrinth / Q000002:abnormalities