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  • Title: A child with multiple congenital malformations and a 46,XX,t(Bq+;Dq-)-45,XX,-B,-D,+der(B),t(Bq+;Dq-) karyotype.
    Author: Carnevale A, De los Cobos L.
    Journal: J Med Genet; 1973 Dec; 10(4):376-9. PubMed ID: 4359604.
    Abstract:
    A case of a female infant with malformations of upper extremities and mental and growth retardation is reported. The karyotype showed a 46,XX,t(Bq+;Dq−)/45,XX,−B,−D,+der(B),t(Bq+;Dq−) mosaicism. The clinical findings in relation to the long arm deletion of a B-group chromosome are discussed.
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