Rieger's syndrome with pericentric inversion of chromosome 6.

Heinemann, Mellie; Breg, R; Cotlier, Edward

doi:10.1136/bjo.63.1.40

Cited by 20 publications

(4 citation statements)

References 22 publications

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“…Although we did not perform any FKHL7 mutation analysis on the three terminal deletion cases, all three had some form of anterior eye chamber abnormality without previous family history; Rieger type anomaly in Case SG, iris coloboma in Case HH and corneal opacities in Case JW are consistent with the effects of FKHL7 haploinsufficiency. Other 6p terminal deletion cases described in the literature as having ocular findings are by Heinemann et al (1979), Chitayat et al (1987), Walsh et al (1997) and the cases reviewed in Law et al (1998).…”

Section: Discussionmentioning

confidence: 94%

Delineation of two distinct 6p deletion syndromes

Davies¹,

Mirza²,

et al. 1999

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Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.

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Section: Discussionmentioning

confidence: 94%

Delineation of two distinct 6p deletion syndromes

Davies¹,

Mirza²,

et al. 1999

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“…been associated with abnormalities on chromosomes 4, 6, 10, 13, 16, and 22 [19][20][21][22][23][24][25][26][27][28][29]. The most common site for chromosomal abnormalities associated with Rieger syndrome was the region of chromosome 4q23-26 [26][27][28][29].…”

Section: Review Articlementioning

confidence: 99%

Rieger syndrome: a clinical, molecular, and biochemical analysis

Amendt

Semina

Alward

2000

CMLS, Cell. Mol. Life Sci.

110

108

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Rieger syndrome (RIEG 1; MIM 180500) is display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been an autosomal dominant disorder of morphogenesis. It shown to be associated with Rieger syndrome. This is a phenotypically heterogeneous disorder characterreview discusses the clinical manifestations of Rieger ized by malformations of the eyes, teeth, and umbilisyndrome and how they correlate with the current cus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and molecular and biochemical studies on this human disRieger anomaly (or Rieger eye malformation), which order.

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“…In later years, the heterogenecity of the syndrome has been appreciated (38,114,115), the presenting ocular signs all being due to deficient cleavage of the anterior chamber. Glau- (96,97).…”

Section: Anterior Chamber Cleavage Syndromesmentioning

confidence: 99%

Genetics of microphthalmos

Warburg

1981

Int Ophthalmol

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This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.

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Rieger's syndrome with pericentric inversion of chromosome 6.

Cited by 20 publications

References 22 publications

Delineation of two distinct 6p deletion syndromes

Delineation of two distinct 6p deletion syndromes

Rieger syndrome: a clinical, molecular, and biochemical analysis

Genetics of microphthalmos

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