A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype |
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Authors: | I. Papoulidis E. Papageorgiou E. Siomou E. Oikonomidou L. Thomaidis A. Vetro O. Zuffardi T. Liehr E. Manolakos Papadopoulos Vassilis |
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Affiliation: | 1. Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece;2. Aghia Sophia Children''s Hospital, Athens, Greece;3. Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy;4. Dept. of Molecular Medicine, University of Pavia, Italy;5. Institute of Human Genetics, Jena, Germany.;6. University of Patras, Medical School, Greece |
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Abstract: | BackroundDown syndrome (DS) is the most common aneuploidy in live-born individuals and it is well recognized with various phenotypic expressions. Although an extra chromosome 21 is the genetic cause for DS, specific phenotypic features may result from the duplication of smaller regions of the chromosome and more studies need to define genotypic and phenotypic correlations.Case reportWe report on a 26 year old male with partial trisomy 21 presenting mild clinical symptoms relative to DS including borderline intellectual disability. In particular, the face and the presence of hypotonia and keratoconus were suggestive for the DS although the condition remained unnoticed until his adult age array comparative genomic hybridization (aCGH) revealed a 10.1 Mb duplication in 21q22.13q22.3 and a small deletion of 2.2 Mb on chromosomal band 7q36 arising from a paternal translocation t(7;21). The 21q duplication encompasses the gene DYRK1.ConclusionOur data support the evidence of specific regions on distal 21q whose duplication results in phenotypes recalling the typical DS face. Although the duplication region contains DYRK1, which has previously been implicated in the causation of DS, our patient has a borderline IQ confirming that their duplication is not sufficient to cause the full DS phenotype. |
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Keywords: | DYRK1, dual-specifity tyrosine phosphorylation-regulated kinase 1 DYRK1A, dual-specifity tyrosine phosphorylation-regulated kinase 1A MX1, myxovirus resistance 1, mouse, homolog of DSCR1, Down syndrome critical region gene 1 APP, amyloid beta (A4) precursor protein UBE3C, ubiquitin protein ligase E3C DNAJB6, DnaJ/HSP40 homolog subfamily B member 6 PTPRN2, tyrosine-protein phosphatase non-receptor type 2 NCAPG2, condensin-2 complex subunit G2 VIPR2, vasoactive intestinal peptide receptor 2 WDR60, WD repeat-containing protein 60 OMIM, Online Mendelian Inheritance in Man |
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