| Literature DB >> 2268977 |
T Ishikawa1, S Sumi, S Fujimoto, Y Shima, Y Wada.
Abstract
A 17-month-old boy is reported with 46,XY,del(4) (p15.2p15.32). He had mild psychomotor retardation and multiple minor anomalies, without growth retardation or microcephaly, which differs from the classical 4p--syndrome (Wolf-Hirschhorn syndrome). The activity of dihydropteridine reductase, a genetic marker for chromosome 4p15.3, was half that in a normal control.Entities:
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Year: 1990 PMID： 2268977 DOI： 10.1111/j.1399-0004.1990.tb03586.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438