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 deleti on of a 22q13,1-q113.2 segment, Clinical features included hearing loss acc ompanied by inner ear anomalies, hypotonia and minor anomalies, such as a l ong philtrum, full eyelids, epicanthus, left transverse palmar crease and p sychomotor developmental delay. Despite the chromosomal deletion, her physi cal growth was accelerated: her height was between the 75th and 90th percen tiles for her age. Her brain MRI showed signs of delayed myelination. The t hree-dimensional MRI of the inner ear showed abnormalities of the cochlea a nd 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 reporte d by Remain et al, [1990: J Med Genet 27:588-589]. Am. J, Med, Genet. 92: 1 95-199, 2000, (C) 2000 Wiley-Liss, Inc.