Familial Langdon Down anomaly with chromosomal fusion

Abstract

Summary: A family has been described in which the Langdon Down anomaly occurred in two sibs, both of whom have forty‐six chromosomes and a fusion of the 15/21 type. This fusion was also found in one normal sister, mother and grandmother. Another sister, the father, maternal grandfather and mother's brother had normal karyotypes. Palmar dermal configurations were correlated with the presence of the chromosomal fusion.The writers wish to express their gratitude to all those who co‐operated in this investigation. In particular they would like to thank Dr Marion Ravell, Dr H. P. Smith, Dr R. M. Bates, Dr A. P. Madigan, Dr Sylvia Lawler, Dr Margaret Penrose, Dr Sarah B. Holt, Miss Ruth Marshall, Miss Barbara Warland, Miss Helen Lang‐Brown, Miss Naziha Farman and Mr A. J. Lee. They would specially mention the kindness and co‐operation of the members of the family studied.We are grateful to the Medical Research Council for a grant to J.D.A.D.: a research grant (RG‐6984) from the United States Public Health Service made the study possible.