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

[monosomy 21]

We present clinical and cytogenetic data of a one year old boy with partial monosomy for both 21 q and 18 p , 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 ,XY ,der (18 )t (18 ;21 )(p 11 .2 ;q 22 .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 18 p only , for monosomy 21 q 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 .

Diseases
Validation

Diseases presenting "seemingly full monosomy" symptom

monosomy 21

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