Literature DB >> 2817010

Prenatal detection of cyclopia associated with interstitial deletion of 2p.

H O Grundy1, P Niemeyer, M K Rupani, V F Ward, E R Wassman.   

Abstract

We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.

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Year:  1989        PMID: 2817010     DOI: 10.1002/ajmg.1320340231

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

Review 1.  Syndromes associated with simple calvarial and complex craniofacial anomalies.

Authors:  P Iannetti; L Chessa; G Iannetti
Journal:  Childs Nerv Syst       Date:  1991-04       Impact factor: 1.475

2.  De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.

Authors:  F J Los; J O Van Hemel; H J Jacobs; S L Drop; J J van Dongen
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

  2 in total

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