Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters

摘要: Editor—There are many reports of partial trisomy 8p in the offspring balanced translocation carriers.1-3 However, these cases effect is usually masked by phenotypic consequences monosomy partner chromosome. Partial for also results from well known inverted duplication described as inv dup(8)(p11.2p23); this rearrangement, however, segment 8p23.1→8pter.4-6 The dup(8) associated with a defined clinical syndrome,5-9 childhood phenotype which includes neonatal feeding problems, hypotonia, structural brain abnormalities, facial dysmorphology, malformed, low set ears, and severe developmental delay. In older patients traits less characteristic, mental retardation profound, spastic paraplegia orthopaedic problems frequent. It that deletion 8p23→pter their sole chromosome abnormality have near normal only mild minimal dysmorphology.10-12 findings dup(8)(p11.2p23) therefore considered to arise primarily result duplicated 8p21. More recent smaller, more distal duplications there no evidence any monosomic segment.13-17 Dhooge et al 13 transmission dup(8)(p22→p23.1) or (p21.3→p22) mother her two children. features were retardation, short stature, hypertelorism. Engelen 14 similar case resulting sons. family, was growth showed slight dysmorphology. Barber 15recently seven families small 8p23.1 reviewed five previously reported abstract form.16 17 …