First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Source:http://linkedlifedata.com/resource/pubmed/id/15103719

Am. J. Med. Genet. A 2004 May 15 127A 1 58-64

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15103719