Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation T(18p;21Q) by fluorescence in situ hybridisation
GENETIC COUNSELING, cilt.13, sa.2, ss.151-156, 2002 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 2
- Basım Tarihi: 2002
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.151-156
- Anahtar Kelimeler: monosomy 21, monosomy 18p-t(18p;21q), FISH, neuronal migration disorder, PACHYGYRIA, GENE
- Akdeniz Üniversitesi Adresli: Evet
Özet
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.