A SMALL AUTOSOMAL RING CHROMOSOME IN A FEMALE INFANT WITH CONGENITAL MALFORMATIONS.

作者: MARY LUCAS , N. H. KEMP , J. R. ELLIS , RUTH MARSHALL

DOI: 10.1111/J.1469-1809.1963.TB00212.X

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摘要: SUMMARY A mentally retarded child with congenital malformations is described in whom a high proportion of cells contained small ring chromosome derived from no. 18 (Denver classification). The variability the morphological appearance illustrated and its stability discussed relation to other instances chromosomes both man organisms. The writers wish thank Dr Margaret D. Baber Ursula James for their co-operation during this investigation, Mr A. J. Lee preparing figures Miss Penelope M. Carr, Linda Z. Gorman Barbara Warland technical assistance. Research grants British Empire Cancer Campaign (N.H.K.), St George's Hospital (M.K.L.) United States Public Health Service (RG-6984) (J.R.E. R.M.) made study possible.

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