Literature DB >> 2817006

Holoprosencephaly and interstitial deletion of 2(p2101p2109).

W G Wilson1, D E Shanks, K W Sudduth, K A Couper, J McIlhenny.   

Abstract

We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.

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Year:  1989        PMID: 2817006     DOI: 10.1002/ajmg.1320340226

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


  3 in total

1.  Investigation of a cyclopic, human, term fetus by use of magnetic resonance imaging (MRI).

Authors:  D Situ; C W Reifel; R Smith; G W Lyons; R Temkin; C Harper-Little; S C Pang
Journal:  J Anat       Date:  2002-05       Impact factor: 2.610

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

3.  Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Authors:  F Lacbawan; B D Solomon; E Roessler; K El-Jaick; S Domené; J I Vélez; N Zhou; D Hadley; J Z Balog; R Long; A Fryer; W Smith; S Omar; S D McLean; K Clarkson; A Lichty; N J Clegg; M R Delgado; E Levey; E Stashinko; L Potocki; M I Vanallen; J Clayton-Smith; D Donnai; D W Bianchi; P B Juliusson; P R Njølstad; H G Brunner; J C Carey; U Hehr; J Müsebeck; P F Wieacker; A Postra; R C M Hennekam; M-J H van den Boogaard; A van Haeringen; A Paulussen; J Herbergs; C T R M Schrander-Stumpel; A R Janecke; D Chitayat; J Hahn; D M McDonald-McGinn; E H Zackai; W B Dobyns; M Muenke
Journal:  J Med Genet       Date:  2009-04-02       Impact factor: 6.318

  3 in total

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