An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development.

Ring chromosomes in man, in association with congenital abnormalities, have been reported involving a chromosome in the I7-I8 group (Genest, Leclerc, and Auger, I963; Gropp, Jussen, and Ofteringer, I964; Lucas, Kemp, Ellis, and Marshall, I963; Wang, Melnyk, McDonald, Uchida, Carr, and Goldberg, I962), a chromosome in the X-6-I2 group which is probably not an X (Turner, I963), a member of the I3-15 group (Smith-White, Peacock, Turner, and Den Dulk, I963), a No. i chromosome (Gordon and Cooke, I964), and on five occasions an X chromosome (Bain, Gauld, and Farquhar, I965; Hustinx and Stoelinga, I964; Lindsten and Tillenger, I962; Luers, Struck, and Nevinny-Stickel, I963; Pfeiffer and Biichner, I964). We report the findings in a further patient with a presumptive ring X chromosome.

[1]  R. Sanger,et al.  Xga Investigations of the Family of a Child with a Ring X Chromosome , 1965, Nature.

[2]  J. Farquhar,et al.  A ring X chromosome in dwarfism. , 1965, Lancet.

[3]  R. Gordon,et al.  RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM. , 1964, Lancet.

[4]  R. Pfeiffer,et al.  Absence of Late Replication of a Human X-Ring Chromosome , 1964, Nature.

[5]  L. Nijenhuis,et al.  Xga Investigations of the Family of a Child with a Ring X Chromosome , 1964, Nature.

[6]  A. Gropp,et al.  Multiple Congenital Anomalies associated with a Partially Ring-shaped Chromosome probably derived from Chromosome No. 18 in Man , 1964, Nature.

[7]  J. Lindsten,et al.  H3-THYMIDINE UPTAKE BY A RING X CHROMOSOME IN A HUMAN FEMALE. , 1964, Proceedings of the National Academy of Sciences of the United States of America.

[8]  U. Mittwoch.  Frequency of Drumsticks in Normal Women and in Patients with Chromosomal Abnormalities , 1964, Nature.

[9]  N. H. Kemp,et al.  A small autosomal ring chromosome in a female infant with congenital malformations , 1963, Annals of human genetics.

[10]  J. Nevinny-stickel,et al.  SELF-PERPETUATING RING CHROMOSOME IN GONADAL DYSGENESIS , 1963 .

[11]  O. N. Bishop,et al.  Analysis of Tritium-labelled Human Chromosomes and Sex Chromatin , 1963, Nature.

[12]  P. Genest,et al.  RING CHROMOSOME AND PARTIAL TRANSLOCATION IN THE SAME CELL , 1963 .

[13]  B. Turner.  CYTOGENETIC STUDIES IN MENTAL RETARDATION. , 1963, Proceedings of the Australian Association of Neurologists.

[14]  J. Rowley,et al.  TRITIATED THYMIDINE INCORPORATION IN AN ISOCHROMOSOME FOR THE LONG ARM OF THE X CHROMOSOME IN MAN , 1963 .

[15]  F. Giannelli.  The pattern of X-chromosome deoxy-ribonucleic acid synthesis in two women with abnormal sex-chromosome complements. , 1963, Lancet.

[16]  W. Peacock,et al.  A Ring Chromosome in Man , 1963, Nature.

[17]  J. Rowley,et al.  Time-Sequence of Human Chromosome Duplication , 1962, Nature.

[18]  I. Uchida,et al.  Ring Chromosomes in Human Beings , 1962, Nature.

[19]  J. Lindsten,et al.  SELF-PERPETUATING RING CHROMOSOME IN A PATIENT WITH GONADAL DYSGENESIS , 1962 .