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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
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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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1973
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1013060/ https://ncbi.nlm.nih.gov/pubmed/4359604 |
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