Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 96, Issue 6, 2000, Pages 839-844

  Goizet, Cyril ^a   Excoffier, Elsa ^b   Taine, Laurence ^a   Taupiac, Emmanuelle ^a,b   Moneim, Azza Abd El ^a   Arveiler, Benoit ^a   Bouvard, Manuel ^b   Lacombe, Didier ^a  

^a HÔPITAL PELLEGRIN   (France)

^b CENTRE HOSPITALIER CHARLES PERRENS   (France)

Author keywords

Autism; Chromosome 22; Del(22)(q13.3); Developmental delay; Mental retardation

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0034606202     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/1096-8628(20001204)96:6<839::aid-ajmg29>3.0.co;2-r     Document Type: Article

References (31)

1. A case of chromosome 22 alteration associated with autistic syndrome
2. Autism as a strongly genetic disorder: Evidence from a British twin studies
3. A case-control family history study of autism
4. Molecular analysis of velocardiofacial syndrome patients with psychiatric disorders
5. A patient with autistic disorder and a 20/22 chromosomal translocation
6. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients
7. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
8. Autism and pervasive developmental disorders
9. Chromosomal disorder and autism
10. Velocardiofacial manifestations and microdeletions in schizophrenic patients
11. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)
12. Long arm deletion of chromosome 22
13. Subtle chromosomal rearrangements in children with unexplained mental retardation
14. Using fluorescence in situ hybridization (FISH) in genome mapping
15. On cognitive variability in velocardiofacial syndrome: Profound mental retardation and autism
16. Infantile autism and associated autosomal chromosome abnormalities: A register-based study and a literature survey
17. Terminal 22q deletion associated with a partial deficiency of arylsulfatase A
18. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
19. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
20. Two 22q telomere deletions serendipitously detected by FISH
21. Autism
22. Partial monosomy for chromosome 22 in a patient with del(22) (pter-q13.1::q13.33-qter)
23. Autistic features in young children with significant cognitive impairment: Autism or mental retardation?
24. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome
25. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation
26. Two patients with 22q13 deletions have similar faces and developmental patterns