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An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat

A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will b...

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Detalhes bibliográficos
Publicado no:J Med Genet
Principais autores: Borgaonkar, Digamber S., McKusick, Victor A., Farber, Phillip A.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1973
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013061/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4129973/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.10.4.379
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