Summary
Deletion 3q27→3qter in an infant is described. A chromosomal abnormality was suspected because of minor facial dysmorphism and closed parietal meningocele. On the first day of life, a large exudative inflammation appeared on the skin of her back, which completely resolved after 1 week. Biopsy showed dilated sweat gland openings resembling miliaria rubra, which has not been previously reported in this age group. It is unclear if the skin change was due to the chromosomal abnormality. The meningocele was repaired at age 8 months. At age 20 months, slight neurodevelopmental delay was evident, the main features being hypertonicity and inability to walk without support. The patient has two healthy sisters, and prometaphase chromosome studies in both parents were normal. This infant represents the first example of del3q27→3qter and the first reported association of meningocele with an abnormality of chromosome 3.
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Jokiaho, I., Salo, A., Niemi, KM. et al. Deletion 3q27→3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions. Hum Genet 83, 302–304 (1989). https://doi.org/10.1007/BF00285180
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DOI: https://doi.org/10.1007/BF00285180