Literature DB >> 1432504

Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24]).

A P Moriarty1, M G Kerr-Muir.   

Abstract

The interstitial deletion of the short arm of chromosome (6)--46 XY del (6) (p22.3 p24) is unrecorded. The ophthalmic findings in a dysmorphic infant included peripheral sclerocornea and epicanthal folds with upslanting palpebral fissures. We present a short review of sclerocornea and the ophthalmic findings of infants with anomalies of chromosome 6. Our findings provide further evidence that genes influencing the development of the anterior segment are located on the distal portion of the short arm of chromosome 6.

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Mesh:

Year:  1992        PMID: 1432504     DOI: 10.3928/0191-3913-19920501-12

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  9 in total

1.  Transplantation of congenitally opaque corneas.

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2.  AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.

Authors:  Erin A Bassett; Trevor Williams; Amanda L Zacharias; Philip J Gage; Sabine Fuhrmann; Judith A West-Mays
Journal:  Hum Mol Genet       Date:  2010-02-11       Impact factor: 6.150

3.  Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

Authors:  Patrícia Bs Celestino-Soper; Cindy Skinner; Richard Schroer; Patricia Eng; Jayant Shenai; Malgorzata Mj Nowaczyk; Deborah Terespolsky; Donna Cushing; Gayle S Patel; Ladonna Immken; Alecia Willis; Joanna Wiszniewska; Reuben Matalon; Jill A Rosenfeld; Roger E Stevenson; Sung-Hae L Kang; Sau Wai Cheung; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Mol Cytogenet       Date:  2012-04-05       Impact factor: 2.009

4.  Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Authors:  Manir Ali; Beatriz Buentello-Volante; Martin McKibbin; J Alberto Rocha-Medina; Narcis Fernandez-Fuentes; Wilson Koga-Nakamura; Aruna Ashiq; Kamron Khan; Adam P Booth; Grange Williams; Yasmin Raashid; Hussain Jafri; Aine Rice; Chris F Inglehearn; Juan Carlos Zenteno
Journal:  Mol Vis       Date:  2010-06-23       Impact factor: 2.367

5.  Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.

Authors:  Gil Binenbaum; Donna M McDonald-McGinn; Elaine H Zackai; B Michael Walker; Karlene Coleman; Amy M Mach; Margaret Adam; Melanie Manning; Deborah M Alcorn; Carrie Zabel; Dennis R Anderson; Brian J Forbes
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

6.  Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Authors:  Tuva Barøy; Doriana Misceo; Petter Strømme; Asbjørg Stray-Pedersen; Asbjørn Holmgren; Olaug Kristin Rødningen; Anne Blomhoff; Johan Robert Helle; Alice Stormyr; Bjørn Tvedt; Madeleine Fannemel; Eirik Frengen
Journal:  Orphanet J Rare Dis       Date:  2013-01-07       Impact factor: 4.123

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.  Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Authors:  Gaia Gestri; Robert J Osborne; Alexander W Wyatt; Dianne Gerrelli; Susan Gribble; Helen Stewart; Alan Fryer; David J Bunyan; Katrina Prescott; J Richard O Collin; Tomas Fitzgerald; David Robinson; Nigel P Carter; Stephen W Wilson; Nicola K Ragge
Journal:  Hum Genet       Date:  2009-12       Impact factor: 4.132

Review 9.  Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Authors:  Douglas B Gould; Mohamad S Jaafar; Mark K Addison; Francis Munier; Robert Ritch; Ian M MacDonald; Michael A Walter
Journal:  BMC Med Genet       Date:  2004-06-25       Impact factor: 2.103

  9 in total

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