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  • Title: Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype.
    Author: Schaefer GB, Domek DB, Morgan MA, Muneer RS, Johnson SF.
    Journal: Am J Med Genet; 1991 Mar 15; 38(4):612-5. PubMed ID: 2063906.
    Abstract:
    A fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a model number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm [47,XY, + i(9p)]. This represents the first report of prenatal diagnosis of tetrasomy 9p. Further delineation of the phenotype is discussed.
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