Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression.

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) is a rare congenital disorder of unknown etiology characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatologic patterns. The latter include long palpebral fissures, broad eye brows sparse in the lateral half, prominent eyelashes, lower lateral palpebral ertropia, and depressed nasal tips. We describe a 13-year-old girl with short stature, delayed puberty, mental retardation, and typical face characteristics of Kabuki make-up syndrome. High-resolution banding chromosome analysis revealed a mos 45,X/46,X,r(X) karyotype. Fluorescence in situ hybridization detected a positive XIST gene signal. XIST expression was demonstrated by reverse transcription polymerase chain reaction using primers spanning exons 2, 3, 4, 5 in RNA prepared from lymphocytes. To our knowledge, this is the first description of Kabuki syndrome manifestation with r(X) and XIST expression in Taiwan.

Deletion of chromosome region 18q21.3-->qter in a patient: clinical, endocrine and imaging abnormalities.

Deletion of chromosome 18q (18q-) is a survivable autosomal abnormality, having an estimated incidence of one in 40,000 live births. Common features of affected individuals include developmental delay, growth retardation, hearing impairment, delayed myelination of the brain, and craniofacial dysmorphism. We describe herein a girl with psychomotor retardation and characteristic midface hypoplasia. The clinical, radioimaging, and cytogenetic findings as occur in 18q- are compared with a terminal deletion in the long arm of chromosome 18. We also monitored the effects of growth hormone treatment for changes in growth, and the patient's height velocity increased from 3.5 cm/yr to 7 cm/yr. Her nonverbal intelligence quotient (nIQ) increased from 30 to 48. Cognition of this patient is significantly improved. However, the brain MRI was not significantly improved after growth hormone treatments changes.