Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations [9]

Journal of Medical Genetics

Volumn 38, Issue 6, 2001, Pages 417-420

  Rossi, E ^a   Piccini, F ^a   Zollino, M ^a   Neri, G ^a   Caselli, D ^a   Tenconi, R ^a   Castellan, C ^a   Carrozzo, R ^a   Danesino, C ^a   Zuffardi, O ^a   Ragusa, A ^a   Castiglia, L ^a   Galesi, O ^a   Greco, D ^a   Romano, C ^a   Pierluigi, M ^a   Perfumo, C ^a   Di Rocco, M ^a   Faravelli, F ^a   Bricarelli, F D ^a   Bonaglia, M C ^a   Bedeschi, M F ^a   Borgatti, R ^a   more..

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CHILD; CLINICAL ARTICLE; CONGENITAL MALFORMATION; FACE DYSMORPHIA; GENE DELETION; GENE REARRANGEMENT; HUMAN; INFANT; LETTER; MENTAL DEFICIENCY; PRIORITY JOURNAL; TELOMERE;

EID: 0034979654     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.6.417     Document Type: Letter

References (27)

1. Subtle chromosomal rearrangements in children with unexplained mental retardation
2. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
3. DMS-IV
4. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
5. Structure of chromosomal duplicons and their role in mediating human genomic disorders
6. Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
7. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
8. New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria
9. DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction
10. Brief clinical report: Two children with de novo del(9p)
11. Neurologic aspects of the 9p- syndrome
12. A new case with de novo partial 9p monosomy
13. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators
14. Opitz trigonocephaly syndrome
15. A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)
16. Partial trisomy 13 due to maternal translocation t(2;13)
17. FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly C phenotype
18. Development of diagnostic tools for the analysis of 5p deletions using interphase FISH
19. Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37
20. Inverted duplications are recurrent rearrangements always associated with a distal deletion: Description of a new case involving 2q
21. Detection of chromosomal aberrations by a whole-genome microsatellite screen
22. High resolution chromosome analysis: A more cost effective approach?
23. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis
24. Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome
25. High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome
26. Diagnostic testing for Prader-Willi and Angelman syndrome: Report of the ASHG/ACMG test and technology transfer committee