All affected children surviving beyond 1 year have been mentally retarded. reported to enable identification of those patients who are mosaic for mutant. Nearly half of the cases died before 6 months. microdeletion/microduplication syndromes for which FISH probes are widely. A predominance of whorls is present on the fingers. Congenital heart disease, gastrointestinal malformations, abnormalities on intravenous urography, and defective masculinization of the male infants are frequently observed. The jaw is typically small and receding and the neck short. Cleft lip/palate and eversion of the lips are common. The phenotype of individuals with deletions varies from normal to severe. It is characterized by growth retardation, developmental delay, mental retardation, dysmorphism, microcephaly, and ptosis. The manifestations include low birth weight, short stature, microcephaly, characteristic 'square' face with temporal indentations, hypertelorism and/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down-turned corners of the mouth. The 3p deletion syndrome is a rare disorder caused by deletions of different sizes in the 3p25-pter region. All affected children surviving beyond 1 year have been mentally retarded.ĪB - A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21→pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. Nearly half of the cases died before 6 months. The manifestations include low birth weight, short stature, microcephaly, characteristic 'square' face with temporal indentations, hypertelorism and/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down-turned corners of the mouth. N2 - A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21→pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. T2 - Report of a new case and review of the literature
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