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An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat
  1. Digamber S. Borgaonkar,
  2. Victor A. McKusick,
  3. Phillip A. Farber
  1. Division of Medical Genetics, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
  2. Cytogenetics Laboratory, Department of Pathology, Geisinger Medical Center Danville, Pennsylvania 17821, USA

    Abstract

    A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will be revaluated and reinterpreted. The mother's karyotype was erroneously interpreted earlier as a 21/22 translocation.

    https://doi.org/10.1136/jmg.10.4.379

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