Literature DB >> 24551976

Ring chromosome 9 in a newborn.

O Aldemir1, I H Celik2, K Karaer3, G Ceylaner3.   

Abstract

Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis. We compared the clinical findings of our cases with previously reported patients in the literature.

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Year:  2013        PMID: 24551976

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.

Authors:  Victor M Salinas-Torres
Journal:  Childs Nerv Syst       Date:  2015-04-24       Impact factor: 1.475

  1 in total

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