Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1)

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 977-981

  Moreira, Lilia ^a   Schinzel, Albert ^b   Baumer, Alessandra ^b   Pinto, Paula ^c   Góes, Fátima ^d   Falcão, Maria De Lourdes ^a   Barbosa, Ana Luiza ^e   Riegel, Mariluce ^b  

^a FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Universidade Salvador   (Brazil)

^d Precocious Intervention Center (CIP)   (Brazil)

^e Portuguese Hospital   (Brazil)

Author keywords

aCGH; Del 4q25 q31.1; Follow up study; Iris development; MCA MR syndrome; Orthodontic rehabilitation; Rieger syndrome

Indexed keywords

TRANSCRIPTION FACTOR PITX2;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 4; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENETIC COUNSELING; GENOTYPE; HUMAN; KARYOTYPE; LONGITUDINAL STUDY; MICROSATELLITE MARKER; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LONGITUDINAL STUDIES; MICROSATELLITE REPEATS; PREGNANCY; SYNDROME; YOUNG ADULT;

EID: 77950417958     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33322     Document Type: Article

References (18)

1. Amendt BA, Semina EV, Alward LM. 2000. Rieger syndrome: A clinical, molecular, and biochemical analysis. Cell Mol Life Sci 57: 1652-1666.
2. Becker SA, Popp S, Rager K, Jauch A. 2003. A new case of an interstitial deletion (4)(q25q27) characterized by molecular cytogenetic techniques and review of the literature. Eur J Pediatr 162:267-270. (Pubitemid 36437761)
3. Chisholm IA, Chudley AE. 1983. Autosomal dominant iridodysgenesis with associated somatic anomalies: Four-generation family with Rieger's syndrome. Br J Ophthalmol 67:529-534.
4. Fryns JP, van den Berghe H. 1992. Rieger syndrome and interstitial 4q26 deletion. Genet Couns 3:46-49.
5. ISCN.2009. In: Shaffer LG, Slovak ML, Campbell LJS, editors. An International system for human cytogenetic nomenclature. Basel: S. Karger; 60,61 pp.
6. Kulharya AS, Maberry M, Kukolich MK, Day DW, Schneider NR, Wilson GN, Tonk V. 1995. Interstitial deletion 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly. Am J Med Genet 55:165-170.
7. Ligutic I, Brecevic L, Petkovic I, Kalogjera T, Rajik Z. 1981. Interstitial deletion 4q and Rieger syndrome. Clin Genet 20:323-327.
8. Motegi T, Nakamura K, Terakawa T. 1988. Deletion of a single chromosome band 4q26 in a malformed girl; exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. J Med Genet 25:628-633.
9. PearceWG,Kerr CB. 1965. Inherited variation in Rieger's malformation. Br J Ophthalmol 49:530-537.
10. Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. 1996. A second locus for Rieger syndrome maps to chromosome 13q14. Am Hum Genet 59:613-619.
11. Raczenbeck C, Krassikoff N, Cosper P. 1991. Second case report of del(4)-(q25q27) and review of the literature. Clin Genet 39:463-466.
12. Riegel M, Baumer A, Baldinger R, Schinzel A. 2009. Revision of breakpoints using molecular methods in a series of structural chromosome aberrations with previously determined breakpoints using banding. Chromosome Res 17:S30.
13. Rieger H. 1935. Beitrage zur Kenntnis seltener Missbildung der Iris. II. Ueber Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Graeffe. Arch Klin Exp Ophthalmol 133: 602-635.
14. Shields MB. 1983. Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 81:736-784.
15. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man, 2nd revised and expanded edition. Berlin and New York: Walter de Gruyter.
16. Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RM. 1997. Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25q27) secondary to balanced insertion in his normal father: Evidence for haplotype insufficiency causing the Rieger malformation. J Med Genet 34: 1012-1014. (Pubitemid 27522108)
17. Semina EV, Reiter R, Leysens NJ, Alward WLM, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. 1996. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14:392-399. (Pubitemid 26414582)
18. Vaux C, Sheffield L, Keith CG, Voltaire L. 1992. Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 29:256-258.