A Child with Multiple Congenital Malformations and a 46,XX,t(Bq+;Dq-)/45,XX,-B, -D, + der(B),t(Bq+;Dq-) Karyotype
Open Access
- 1 December 1973
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 10 (4) , 376-379
- https://doi.org/10.1136/jmg.10.4.376
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.Keywords
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