Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

American Journal of Medical Genetics

Volumn 108, Issue 3, 2002, Pages 226-228

  Czakó, Márta ^a   Riegel, Mariluce ^b   Morava, Éva ^a   Schinzel, Albert ^b   Kosztolányi, György ^b  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Chromosome 18 short arm monosomy; Chromosome 20 short arm trisomy; Juvenile polyarthritis; Whole arm translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 18; CHROMOSOME 20P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME PAINTING; CHROMOSOME TRANSLOCATION 18; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOSS; HUMAN; HUMAN CELL; IMMUNOPATHOLOGY; JUVENILE RHEUMATOID ARTHRITIS; MENTAL RETARDATION MALFORMATION SYNDROME; MILK INTOLERANCE; MONOSOMY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; TRISOMY 18;

ABNORMALITIES, MULTIPLE; ARTHRITIS, RHEUMATOID; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 20; FACE; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; PSYCHOMOTOR DISORDERS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0037087409     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10243     Document Type: Article

References (16)

1. Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: Detection of a centromeric DNA break?
2. Duplication (20p) in association with thyroid carcinoma
3. Rheumatoid arthritis in the 46,XX,18p- syndrome
4. Vitamin B12 deficiency in an 18p- patient
5. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements
6. The association of autoimmune disorders with 18p- syndrome
7. Duplication 20p identified via fluorescent in situ hybridization
8. Cytogenetic analysis by in situ hybridization with fluorescent labeled nucleic acid probes
9. IgA and partial deletions of chromosome 18
10. IgA absence associated with short arm deletion of chromisone no. 18
11. Sindrome da delezione del braccio corto del cromosoma 18 associata ad acidosi tubulare prossimale, in paziente con sindrome nefrosica da nefropatia glomerulare a lesioni minimi
12. 46,XX,del(18p) with amenorrhea, hypothyroidism and ptosis
13. Gonadal dysgenesis in del(18p) syndrome
14. Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: Detection of a break in the centromeric alpha-satellite sequences
15. Probable deletion of the short arm of chromosome 18