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  • Title: Monosomy 21: a possible stepwise evolution of the karyotype.
    Author: Abeliovich D, Carmi R, Karplus M, Bar-Ziv J, Cohen MM.
    Journal: Am J Med Genet; 1979; 4(3):279-86. PubMed ID: 574719.
    Abstract:
    We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis-like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,-21/46,XX,del(21)(q11)46,XX. The existence of these three lines suggests a possible explanation for the few cases of "complete monosomy 21" which have been reported.
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