Chromosomal translocation in a family with ocular anomalies: Indications for karyotype analysis [2]

British Journal of Ophthalmology

Volumn 87, Issue 5, 2003, Pages 646-648

  Jamieson, R V ^a,b   Gaunt, L ^a   Donnai, D ^a   Black, G C M ^a,d   Kerr, B ^c   Stecko, O ^c  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTERIOR EYE SEGMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CONGENITAL CATARACT; DISEASE COURSE; DISEASE SEVERITY; EYE MALFORMATION; GENE MUTATION; GENETIC DISORDER; HUMAN; KARYOTYPE; KARYOTYPING; LETTER; MEDICAL EXAMINATION; MENTAL DEFICIENCY; ONSET AGE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY;

ADULT; AGE OF ONSET; CATARACT; CHILD, PRESCHOOL; EYE ABNORMALITIES; FACIES; FAMILY HEALTH; FEMALE; HUMANS; KARYOTYPING; MALE; PEDIGREE; TRANSLOCATION, GENETIC;

EID: 0038746698     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.87.5.646     Document Type: Letter

References (5)

1. Jamieson RV, Perveen R, Kerr B, et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 2002;11:33-42.
2. Fantes J, Redeker B, Breen M, et al. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 1995;4:415-22.
3. Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19:140-7.
4. Flomen RH, Vatcheva R, Gorman PA, et al. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998;47:409-13.
5. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counselling. Oxford: Oxford University Press, 1996.