Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906600 | Gene | 2013 | 5 Pages |
Abstract
We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case.
⺠We present ring chromosome 2 with 2p25 and 2q37 microdeletions. ⺠Phenotype includes IUGR, microcephaly, lissencephaly and genital anomaly. ⺠We discuss the genotype-phenotype correlation.
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Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Chih-Ping Chen, Chen-Ju Lin, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Yu-Ting Chen, Jun-Wei Su, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang,