A case of trisomy 3q21→qter syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1979-01

AUTHORS

Ikuko Kondo, Takeki Hirano, Hideo Hamaguchi, Yoshiaki Ohta, Sachiko Haibara, Hiroshi Nakai, Hitoshi Takita

ABSTRACT

An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenotypic features of this syndrome include growth failure and mental or developmental retardation, hypotonia, persistent lanugo, distorted head, congenital glaucoma, short and upturned nose, prominent maxilla, micrognathia, short, webbed neck, short limbs, retroflexed third and fourth toes, cutaneous syndactyly of the second, third and fourth toes, and elevated galactose-1-phosphate uridyl transferase activity in the red blood cells. More... »

PAGES

141-147

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00291914

DOI

http://dx.doi.org/10.1007/bf00291914

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1023824172

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/422197


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