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A Child with Multiple Congenital Malformations and a 46,XX,t(Bq+;Dq−)/45,XX,−B, −D, + der(B),t(Bq+;Dq−) Karyotype
  1. Alessandra Carnevale,
  2. Luis De Los Cobos*
  1. Genetics Service, Hospital Infantil, IMAN Insurgentes Sur 3700-C, Mexico 22, DF


    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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    • * Present address: Department of Biochemistry, Section of Genetics, Universidad de los Andes, School of Medicine Mérida, Venezuela.