Literature DB >> 6718125

Further delineation of the 10p deletion syndrome.

C L Elstner, J C Carey, G Livingston, J Moeschler, M Lubinsky.   

Abstract

Nine children with a partial deletion of the short arm of the number 10 chromosome have been described in the medical literature. In two new cases of 10p-, the children have several features in common with those previously reported; these features include down-slanting short palpebral fissures, ear anomalies, anteverted nostrils, a short neck, and psychomotor delay. At this stage in the delineation of this condition, the phenotypic expression is variable. However, the craniofacial features of the two children with recently reported 10p- and others display a constellation of individually nonspecific but consistent findings that together form a recognizable gestalt. Pediatric practitioners should consider performing karyotypes in children with developmental disabilities accompanied by multiple structural defects and/or multiple physical variations not part of the family background.

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Year:  1984        PMID: 6718125

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  3 in total

1.  MRI findings in a patient with partial monosomy 10p.

Authors:  F Sunada; F C Rash; D A Tam
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

Review 2.  Developmental trajectories in 22q11.2 deletion.

Authors:  Ann Swillen; Donna McDonald-McGinn
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-05-18       Impact factor: 3.908

Review 3.  Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Authors:  E Graham Davies
Journal:  Front Immunol       Date:  2013-10-31       Impact factor: 7.561

  3 in total

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