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Case Reports
A complex chromosome rearrangement resulting in trisomy 15q22→qter
  1. Patricia N Howard-Peebles,
  2. Paula R Scarbrough,
  3. Joe Sharpe, Pediatrician*,
  4. Wayne H Finley,
  5. Sara C Finley
  1. Laboratory of Medical Genetics, Department of Public Health, University of Alabama in Birmingham, Birmingham, Alabama, USA.
  2. *Laboratory of Medical Genetics, Department of Pediatrics, , Selma, Alabama, USA.

    Abstract

    A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation in growth and development, microcephaly, asymmetrical facies, prominent occiput, antimongoloid slant of the palpebral fissures, micrognathia, prominent nose, and congenital heart disease.

    https://doi.org/10.1136/jmg.19.3.224

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