Phenotypic variability of the cat eye syndrome. Case report and review of the literature

Genetic Counseling

Volumn 12, Issue 3, 2001, Pages 273-282

  Rosias, P P R ^a   Sijstermans, J M J ^a   Theunissen, P M V M ^a   Pulles Heintzberger, C F M ^a   De Die Smulders, C E M ^a   Engelen, J J M ^a   Van der Meer, S B ^a  

^a Sittard Geleen Heerlen   (Netherlands)

Author keywords

Cat eye syndrome; Fluorescence in situ hybridization; Microdissection; Supernumerary marker chromosome 22

Indexed keywords

ARTICLE; CASE REPORT; CAT EYE SYNDROME; CLINICAL FEATURE; CYTOGENETICS; GENETIC VARIABILITY; HUMAN; HYPOSPADIAS; IN SITU HYBRIDIZATION; MALE; NEWBORN; PHENOTYPE; SKIN DEFECT; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOMES, HUMAN, PAIR 22; COLOBOMA; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETIC MARKERS; HUMANS; HYPERTELORISM; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; IRIS; KARYOTYPING; MALE; PHENOTYPE; PREGNANCY; SYNDROME; VARIATION (GENETICS);

EID: 0034791061     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Cat eye syndrome, a partial trisomy 22
2. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker (22) chromosomes
3. High resolution R- and G-banding on the same preparation
4. A three generation minute supernumerary ring 22: Association with cat eye syndrome
5. A simple and efficient method for microdissection and microFISH
6. Ring 22 duplication/deletion mosaicism: Clinical, cytogenetic, and molecular characterisation
7. A novel chromosomal basis for imperforate anus (the cat's eye syndrome)
8. Chromosome microdissection identifies cryptic sites of DNA sequence amplification in human ovarian carcinoma
9. The aetiology of the cat eye syndrome reconsidered
10. Beitrage zu den angeborenen fehlern des auges
11. The trisomy 22 syndrome and the cat eye syndrome
12. High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
13. Characterization of the supernumerary chromosome in cat eye syndrome
14. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region
15. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
16. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region
17. Chromosomes in coloboma and anal atresia
18. The « cat eye syndrome »: Dicentric small marker chromosome probably derived from a N° 22 (tetrasomy 22pter → q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture