Article Text

PDF

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

    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.

    Statistics from Altmetric.com

    Footnotes

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

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.