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partial 1q trisomy mosaicism

Monday 31 October 2005

Synospsis

 severe-profound mental retardation
 multiple congenital anomalies
 Wilms tumor predisposition (16213366)

See also

 mosaic duplication 1(q11q44)

References

 Mark HF, Wyandt H, Pan A, Milunsky JM. Constitutional partial 1q trisomy mosaicism and Wilms tumor. Cancer Genet Cytogenet. 2005 Oct 15;162(2):166-71. PMID: 16213366

 Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes. Pediatr Dev Pathol. 2005 Jan-Feb;8(1):115-23. PMID: 15803218