Duplication-deficiency of the short arm of chromosome 8 following artificial insemination

Ann Genet. 1976 Dec;19(4):241-7.

Abstract

A chromosomally abnormal child with psychomotor retardation and multiple anomalies, including agenesis of the corpus callosum and cleft palate, was born following artificial insemination by donor. Chromosomal and conventional markers were used to ascertain paternity. Various banding techniques were employed to identify the origin of the extra chromosomal material as most likely a duplication-deficiency of the short arm of chromosome No. 8.

PIP: A case study of a chromosomally abnormal child, conceived through artificial insemination, with psychomotor retardation and multiple anomalies, including agenesis of the corpus callosum and cleft palate, is reported. Paternity was established through chromosomal and conventional markers. Various banding techniques were used to determine the origin of the extra chromosome. It is likely that the extra chromosomal material was the result of a duplication-deficiency of the short arm of chromosome No. 8.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations* / genetics*
  • Chromosome Disorders*
  • Chromosomes, Human, 6-12 and X*
  • Dermatoglyphics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Insemination, Artificial*
  • Intellectual Disability / genetics
  • Karyotyping