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  • Title: Interstitial deletion of chromosome 2 (p23p25).
    Author: Penchaszadeh VB, Dowling PK, Davis JG, Schmidt R, Wapnir RA.
    Journal: Am J Med Genet; 1987 Jul; 27(3):701-6. PubMed ID: 3477099.
    Abstract:
    We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.
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