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Humangenetik

, Volume 29, Issue 2, pp 91–98 | Cite as

Trisomy 9q—. A variant of the 9p trisomy syndrome

  • Willard R. Centerwall
  • Carol A. Mayeski
  • Chul C. Cha
Original Investigations

Summary

A low-birth-weight near-term male infant was found to have a non-familial 47,XY chromosome complement with an extra medium-sized metacentric chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a bumber 9 with deletion of approximately half of the long arm at region q22. Chromosome studies on the clinically normal 38-year-old mother showed a balanced translocation with the deleted portion attached onto the distal end of a number 8 short arm, i.e. 46,XX,t(8;9)(p23;q22). Nondisjunction during meiosis of this woman's normal and deleted number 9 chromosomes is the basis of the child's abnormalities. One half-sibling of the child has a balanced translocation similar to that in the mother. Chromosome analyses on 4 others of the child's maternal half-siblings and on the maternal grandmother all showed normal patterns.

Keywords

Chromosome Analysis Normal Pattern Male Infant Chromosome Complement Chromosome Study 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer-Verlag 1975

Authors and Affiliations

  • Willard R. Centerwall
    • 1
  • Carol A. Mayeski
    • 1
  • Chul C. Cha
    • 1
  1. 1.Department of PediatricsLoma Linda University Medical CenterLoma Linda

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