Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detect...

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Detalhes bibliográficos
Main Authors: Heller, A., Seidel, J, Hubler, A, Starke, H, Beensen, V, Senger, G, Rocchi, M, Wirth, J, Chudoba, I, Claussen, U, Liehr, T
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734635/
https://ncbi.nlm.nih.gov/pubmed/10882757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.7.529
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