Partial trisomy 9q: A new syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1975-09

AUTHORS

Catherine Turleau, J. de Grouchy, Françoise Chavin-Colin, Michelle Roubin, P. E. Brissaud, G. Repessé, Anne Safar, P. Borniche

ABSTRACT

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature. More... »

PAGES

233-241

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00297629

DOI

http://dx.doi.org/10.1007/bf00297629

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009471695

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1165102


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