Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation T(18p;21Q) by fluorescence in situ hybridisation

Alkan M., Ramelli G., Hirsiger H., Keser I., Remonda L., Buhler E., ...More

GENETIC COUNSELING, vol.13, no.2, pp.151-156, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 2
  • Publication Date: 2002
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.151-156
  • Keywords: monosomy 21, monosomy 18p-t(18p;21q), FISH, neuronal migration disorder, PACHYGYRIA, GENE
  • Akdeniz University Affiliated: Yes

Abstract

We present clinical and cytogenetic data of a one year old boy with partial monosomy for both 21q and 18p, resulting from a de novo unbalanced translocation. The initial diagnosis of a seemingly full monosomy 21 was revised after fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and a locus-specific chromosome 21 probe. The karyotype was reinterpreted as 45,XYder(18)t(18;21) (p11.2;q22.1),-21. This karyotype, to our knowledge, has not been previously described. The boy presented with a spectrum of clinical features previously described for (partial) monosomy 18p only, for monosomy 21q only, or for both of these aneusomies. The radiological finding of a neuronal migration disorder with localised polymicrogyria (cortical dysplasia) has not been described for either monosomy before.