title: Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: a case report.
abstract: We present a case of a ring (21) in a mentally challenged patient with mosaicism for trisomy 21 showing karyotype 47, XY,+21/47,XY,+21(r)/46,XY, born to normal parents. The parents and female sibling were phenotypically normal. This is a unique case report from Central India, on occurrence of trisomy 21 and r (21) in the same individual born to normal parents. Also being documented for the first time is the immuno-FISH analysis revealing differential expression of hTERT and a linked over expression of TRF2 in proband, probably corresponding to a high percentage of acrocentric associations.
authors.affiliation: Department of Research in Medical Biotechnology, Bhopal Memorial Hospital & Research Centre, Raisen By-Pass Road, Bhopal-462038, India.
authors.forename: Ravindra M
authors.initials: RM
authors.lastname: Samarth
authors.forename: Puneet
authors.initials: P
authors.lastname: Gandhi
authors.forename: Hemant
authors.initials: H
authors.lastname: Pandey
authors.forename: Kewal K
authors.initials: KK
authors.lastname: Maudar
mesh_terms: D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007194:India; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes; D019098:Telomerase / Q000235:genetics; D035341:Telomeric Repeat Binding Protein 2 / Q000235:genetics
chemical_list: C504753:TERF2 protein, human; D035341:Telomeric Repeat Binding Protein 2; C509186:TERT protein, human; D019098:Telomerase