Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

摘要: Deletions of the distal short arm chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment this chromosomal has made it difficult characterize clinical molecular aspects syndrome. Recent advances in technology, particularly FISH, have greatly improved ability identify 1p36 deletions allowed clearer definition phenotype characteristics We identified 14 patients with assessed frequency each phenotypic feature manifestation 13 pure deletions. The physical extent parental origin were determined use FISH probes on preparations analysis polymorphic DNA markers their available parents. Clinical examinations revealed that most common features medical problems syndrome include large anterior fontanelle (100%), motor delay/hypotonia (92%), mental retardation delay (85%), pointed chin (80%), eye/vision (75%), seizures (72%), flat nasal bridge (65%), clinodactyly and/or fifth finger(s) (64%), low-set ear(s) (59%), ear asymmetry (57%), hearing deficits (56%), abusive behavior thickened helices (53%), deep-set eyes (50%). polymorphism showed there is no uniform region but, rather, spectrum different sizes minimal overlap.