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Literature DB >> 1583647

Evidence that Rieger syndrome maps to 4q25 or 4q27.

C Vaux¹, L Sheffield, C G Keith, L Voullaire.

Abstract

We report a baby with the features of Rieger syndrome and a de novo interstitial deletion of 4q which includes band 4q26 and an adjoining GTL light band, either q25 or q27. Rieger syndrome is provisionally mapped to 4q23----q27 but band 4q26 has been excluded as a possible site, suggesting that Rieger syndrome must map to a band, either 4q25 or 4q27, adjoining 4q26.

Entities: Disease

Mesh：

Year: 1992 PMID： 1583647 PMCID： PMC1015927 DOI： 10.1136/jmg.29.4.256

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

6 in total

Review 1. Report of the committee on the genetic constitution of chromosome 4.

Authors: D R Cox; J C Murray; K H Buetow
Journal: Cytogenet Cell Genet Date: 1989

2. The Rieger syndrome.

Authors: R J Jorgenson; L S Levin; H E Cross; F Yoder; T E Kelly
Journal: Am J Med Genet Date: 1978

3. Interstitial deletion 4q and Rieger syndrome.

Authors: I Ligutić; L Brecević; I Petković; T Kalogjera; Z Rajić
Journal: Clin Genet Date: 1981-11 Impact factor: 4.438

4. Deletions of different segments of the long arm of chromosome 4.

Authors: J A Mitchell; S Packman; W D Loughman; R M Fineman; E Zackai; S R Patil; B Emanual; J A Bartley; J W Hanson
Journal: Am J Med Genet Date: 1981

5. Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.

Authors: T Motegi; K Nakamura; T Terakawa; A Oohira; K Minoda; K Kishi; Y Yanagawa; H Hayakawa
Journal: J Med Genet Date: 1988-09 Impact factor: 6.318

6. The Rieger syndrome and a chromosome 13 deletion.

Authors: R A Stathacopoulos; J B Bateman; R S Sparkes; R S Hepler
Journal: J Pediatr Ophthalmol Strabismus Date: 1987 Jul-Aug Impact factor: 1.402

6 in total

15 in total

Review 1. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors: Zeynep Tümer; Daniella Bach-Holm
Journal: Eur J Hum Genet Date: 2009-06-10 Impact factor: 4.246

Review 2. Neural crest derivatives in ocular development: discerning the eye of the storm.

Authors: Antionette L Williams; Brenda L Bohnsack
Journal: Birth Defects Res C Embryo Today Date: 2015-06-04

3. Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

Authors: A Schinzel; L Brecevic; F Dutly; A Baumer; F Binkert; R H Largo
Journal: J Med Genet Date: 1997-12 Impact factor: 6.318

9. A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.

Authors: Sandra Anna Becker; Susanne Popp; Klaus Rager; Anna Jauch
Journal: Eur J Pediatr Date: 2003-02-19 Impact factor: 3.183

10. Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Authors: Mukesh Tanwar; Tanuj Dada; Rima Dada
Journal: Case Rep Med Date: 2010-08-09