Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype

American Journal of Medical Genetics

Volumn 95, Issue 5, 2000, Pages 467-472

  Natacci, F ^a   Corrado, L ^a   Pierri, M ^b   Rossetti, M ^b   Zuccarini, C ^b   Riva, P ^a   Miozzo, M ^a   Larizza, L ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b Foundation Institute Sacra Famiglia   (Italy)

Author keywords

17p11.2; Joubert syndrome; Smith Magenis syndrome

Indexed keywords

ADULT; ARTICLE; ATAXIA; BRACHYDACTYLY; CASE REPORT; CENTROMERE; CHROMOSOME 17P; CHROMOSOME DELETION; FACE MALFORMATION; FEMALE; GENE LOCUS; GENE MAPPING; HUMAN; JOUBERT SYNDROME; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME; TELOMERE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; DNA; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; MICROSATELLITE REPEATS; PHENOTYPE; POLYMERASE CHAIN REACTION; RESPIRATION DISORDERS; SYNDROME;

ATAXIA; POMACANTHUS MACULOSUS;

EID: 0034684735     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001218)95:5<467::AID-AJMG11>3.0.CO;2-T     Document Type: Article

References (18)

1. The face of Smith-Magenis syndrome: A subjective and objective study
2. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
3. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
4. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del (17)(p11.2)
5. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
6. Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
7. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
8. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3 and supports homology to the mouse model shaker-2
9. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
10. Molar tooth sign in Joubert syndrome: Clinical, radiologic and pathologic significance
11. In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA
12. Clinical and molecular analysis in Joubert syndrome
13. A rapid and simple method of generating locus-specific probes for FISH analysis
14. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
15. Joubert syndrome: A review
16. Behavioural phenotype of Smith-Magenis syndrome (del 17p11.2)
17. Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease