46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
A mosaic karyotype: 46,XY,del(18)(q21.3q22.2)/47,XY,del(18) (q21.3q22.2)+ marker, was found in a mentally retarded male with a mild form of the 18q- syndrome and aplasia of the right thumb. By fluorescent in situ hybridisation, the marker chromosome could be identified as a ring chromosome no. 18.
Maaswinkel-Mooij
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PD
Department of Pediatrics and Clinical Genetics, University Hospital Leiden, The Netherlands.
de Jong
P
P
Beverstock
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GC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*