scholarly journals A New Locus for Autosomal Dominant Stargardt-Like Disease Maps to Chromosome 4

1999 ◽  
Vol 64 (5) ◽  
pp. 1394-1399 ◽  
Author(s):  
Marina Kniazeva ◽  
Michael F. Chiang ◽  
Basil Morgan ◽  
Alfred L. Anduze ◽  
Donald J. Zack ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Chromosome 4

An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4

2003 ◽  
Vol 44 (4) ◽  
pp. 1657 ◽  
Author(s):  
Michel Michaelides ◽  
Samantha Johnson ◽  
Arabella Poulson ◽  
Keith Bradshaw ◽  
Caren Bellmann ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Macular Dystrophy ◽  
Chromosome 4 ◽  
Bull's Eye

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

1993 ◽  
Vol 5 (4) ◽  
pp. 359-362 ◽  
Author(s):  
D.J.M. Peters ◽  
L. Spruit ◽  
J.J. Saris ◽  
D. Ravine ◽  
L.A. Sandkuijl ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Chromosome 4 ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Hereditary Benign Intraepithelial Dyskeratosis: An Evaluation of Diagnostic Cytology

2008 ◽  
Vol 132 (8) ◽  
pp. 1325-1328 ◽  
Author(s):  
Thomas J. Cummings ◽  
Leslie G. Dodd ◽  
Christopher R. Eedes ◽  
Gordon K. Klintworth
Keyword(s):  
North Carolina ◽  
Native Americans ◽  
Epithelial Cells ◽  
Clinical Setting ◽  
Genetic Linkage ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Chromosome 4 ◽  
Autosomal Dominant Disorder ◽  
Genetic Features

Abstract Context.—Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels. The condition is predominantly seen in Native Americans belonging to the Haliwa-Saponi tribe located in northeastern North Carolina. Objective.—To determine whether HBID can be diagnosed using cytologic preparations of the conjunctiva, and whether the cytologic findings correlated with the genetic linkage involving a duplication in chromosome 4 (4q35). Design.—Cytologic preparations from conjunctival brushings in patients afflicted with HBID and from unaffected blood relatives with normal conjunctivas were compared in a masked fashion. Cytologic observations were correlated with molecular genetic analyses. Results.—Papanicolaou-stained preparations from the conjunctiva showed the typical cytologic features of HBID, including rounded squamous epithelial cells with dense homogenous orange cytoplasm and hyperchromatic, pyknotic, or crenated nuclei. All cases with the diagnostic cytologic findings of HBID had a duplication in chromosome 4 (4q35). Conclusion.—HBID is an entity with distinct clinical, histopathologic, and genetic features. The results of this study indicate the diagnosis can also be supported in an appropriate clinical setting when adequate epibulbar cytology preparations are obtained and the characteristic genetic attributes are present.

scholarly journals 726 AUTOSOMAL DOMINANT ANTERIOR SEGMENT DYSGENESIS WITH VARIABLE EXPRESSIVITY: PROBABLE LINKAGE TO MNS BLOOD GROUP ON CHROMOSOME 4

1981 ◽  
Vol 15 ◽  
pp. 563-563 ◽  
Author(s):  
Helen M Hittner ◽  
Robert E Ferrell ◽  
James H Antoszyk ◽  
Frank L Kretzer ◽  
Arnold J Rudolph
Keyword(s):  
Blood Group ◽  
Autosomal Dominant ◽  
Anterior Segment ◽  
Chromosome 4 ◽  
Anterior Segment Dysgenesis ◽  
Variable Expressivity

scholarly journals Piebaldism in To Balo, South Sulawesi: Brief Report and Literature Review

Biota ◽  
2019 ◽  
Vol 12 (2) ◽  
Author(s):  
Isna Rasdianah Aziz ◽  
Cut Muthiadin ◽  
Andi Nabila Nurfitrah
Keyword(s):  
Literature Review ◽  
Autosomal Dominant ◽  
Normal Individual ◽  
Congenital Disorder ◽  
Third Generation ◽  
Chromosome 4 ◽  
South Sulawesi ◽  
Normal Individuals ◽  
Kit Gene

Piebaldism is an autosomal dominant congenital disorder in pigment as a result of mutations in KIT gene, mapped on the long arm of chromosome 4. To Balo lived as a carrier of piebaldism genes. There are only four individuals of To Balo communities remained on Pujananting district, South Sulawesi. This study was a brief report and literature review about suspects of Piebaldism in To Balo. Data was collected by observation of depigmentation, interview and then depicted in pedigree. Phenotypic observations resulted in piebaldism on three individuals of To Balo, showed the same pattern and location of white patches. It is concluded that normal individuals could appear in third-generation when a woman or man carrier of piebaldism married with a normal individual.

The chicken CLOCK gene maps to chromosome 4

2000 ◽  
Vol 31 (5) ◽  
pp. 344-344 ◽  
Author(s):  
M A Noakes ◽  
M T Campbell ◽  
B J Van Hest
Keyword(s):  
Clock Gene ◽  
Chromosome 4 ◽  
Gene Maps
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