Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies

American Journal of Medical Genetics

Volumn 107, Issue 4, 2002, Pages 285-293

  Baker, Elizabeth ^a,b   Hinton, Lyn ^a   Callen, David F ^a,b   Altree, Meryl ^a   Dobbie, Angus ^a   Eyre, Helen J ^a   Sutherland, Grant R ^a,b   Thompson, Elizabeth ^a   Thompson, Peter ^c   Woollatt, Erica ^a   Haan, Eric ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Cryptic chromosome abnormalities; Idiopathic mental retardation; Subtelomeric rearrangements

Indexed keywords

ADOLESCENT; ARTICLE; BIODIVERSITY; CHILD; CHILDHOOD DISEASE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CROSS HYBRIDIZATION; CYTOGENETICS; DIAGNOSTIC TEST; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENETIC POLYMORPHISM; HUMAN; INHERITANCE; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; TELOMERE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; DNA PROBES; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MASS SCREENING; MENTAL RETARDATION; PEDIGREE; TELOMERE;

EID: 18244367159     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10159     Document Type: Article

References (18)

1. Mental retardation and abnormal aminoacidurias occurring in a family
2. Distal 12p deletion in a stillborn infant
3. Disruption of the PreSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
4. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
5. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
6. Mild phenotype in two siblings with distal monosomy 12p13.31 → pter
7. Quantitative PCR
8. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
9. Subtle chromosomal rearrangements in children with unexplained mental retardation
10. An optimized set of human telomere clones for studying telomere integrity and architecture
11. A complete set of human telomeric probes and their clinical application
12. 22q13 deletion Syndrome
13. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth faiure in idiopathic short stature and Turner syndrome
14. A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: Clinical findings and review of subtelomeric rearrangements
15. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
16. Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
17. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric. FISH and the new MAPH telomeric assay
18. Construction of a high-resolution physical and transcription map of chromosome 16q24.3: A region of frequent loss of heterozygosity in sporadic breast cancer