A partial short arm deletion of chromosome 20:46, XY, del(20)(p11)

@article{Kogame1978APS,
  title={A partial short arm deletion of chromosome 20:46, XY, del(20)(p11)},
  author={K. Kogame and T. Fukuhara and Atsuhiko Maeda and Y. Kudo},
  journal={Japanese Journal of Human Genetics},
  year={1978},
  volume={23},
  pages={153-160}
}
  • K. Kogame, T. Fukuhara, +1 author Y. Kudo
  • Published 1978
  • Biology, Medicine
  • Japanese Journal of Human Genetics
  • SummaryWe have identified a partial deletion of the short arm of chromosome 20 in a 5-year-old boy from parents having normal phenotype and karyotype. His major anomalies were mild mental retardation, congenital heart disease, chest deformity, spina bifida, kyphoscoliosis, inguinal hernia, and preauricular fistula. The clinical findings were compared with those of two patients reported previously as a partial deletion 20p.The activity of adenosine deaminase in the patient's red blood cells was… CONTINUE READING
    22 Citations
    Deletion of the short arm of chromosome 20
    • 24
    Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
    • 37
    Alagille syndrome and deletion of 20p.
    • 80
    • PDF
    Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype
    • 13
    Familial ring (20) chromosomal mosaicism
    • 38
    A tale of two deletions: A report of two novel 20p13 → pter deletions
    • 15

    References

    SHOWING 1-10 OF 21 REFERENCES
    Deletion of the short arms of chromosome 20
    • 22
    Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.
    • 26
    • PDF
    A familial F/G translocation [t(20p‐; 22q+)] observed in three generations
    • 14
    Trisomy for short arm of chromosome 20
    • 12
    A case of trisomy 20?
    • 19
    Trisomy of chromosome 20
    • 38
    • Highly Influential
    The r(20) syndrome.
    • 24
    • PDF
    Identity of the abnormal F-group chromosome associated with polycythaemia vera
    • 49
    A ring-20 chromosome.
    • 65
    • PDF