Literature DB >> 1642272

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

K Naritomi1, Y Izumikawa, S Nagataki, Y Fukushima, K Wakui, N Niikawa, K Hirayama.   

Abstract

We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31.

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Year:  1992        PMID： 1642272     DOI： 10.1002/ajmg.1320430517

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


  8 in total

1.  Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Authors:  P Prontera; A Bartocci; V Ottaviani; I Isidori; D Rogaia; C Ardisia; G Guercini; A Mencarelli; E Donti
Journal:  Mol Syndromol       Date:  2013-04-11

2.  Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study.

Authors:  Joseph N Martel; Tina Rutar; Brandon J Lujan; Alejandra de Alba Campomanes
Journal:  J AAPOS       Date:  2011-06       Impact factor: 1.220

3.  Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28.

Authors:  T A Angel; C J Faust; J C Gonzales; S Kenwrick; R A Lewis; G E Herman
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Authors:  May-Britt Harmsen; Silvia Azzarello-Burri; M Mar García González; Gabriele Gillessen-Kaesbach; Peter Meinecke; Dietmar Müller; Anita Rauch; Eva Rossier; Eva Seemanova; Christiane Spaich; Bernhard Steiner; Dagmar Wieczorek; Martin Zenker; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

Review 6.  Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Authors:  Alessia Indrieri; Brunella Franco
Journal:  Genes (Basel)       Date:  2021-02-11       Impact factor: 4.096

Review 7.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

8.  Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors:  Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal:  Mol Vis       Date:  2013-02-06       Impact factor: 2.367
  8 in total

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