Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

Journal of Medical Genetics

Volumn 34, Issue 8, 1997, Pages 640-644

  Doheny, Kimberly F ^a,b,d   McDermid, Heather E ^c   Harum, Karen ^a,b   Thomas, George H ^a,b   Raymond, Gerald V ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c UNIVERSITY OF ALBERTA   (Canada)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Cryptic subtelomeric rearrangement; D22S39; del(22)(q13.3); Idiopathic mental retardation

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 22; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA PROBE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; HUMAN; HUMAN CELL; LANGUAGE DISABILITY; MARKER GENE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; TRISOMY;

EID: 0030795894     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.8.640     Document Type: Article

References (19)

1. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-9.
2. Nesslinger NJ, Gorski JL, Kurczynski TW, et al. Clinical, cytogenetic and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 1994;54:464-72.
3. Zwaigenbaum L, Siegel-Bartelt J, Teshima I, Ho C. Two patients with 22q13.3 deletions have similar facies and developmental patterns. Am J Hum Genet 1990;47:A45.
4. Barch MJ, ed. The ACT cytogenetics laboratory manual. 2nd ed. New York: Raven Press, 1990:17-107, 149-205.
5. Bell CJ, Budarf ML, Nieuwenhuijsen BW, et al. Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers. Hum Mol Genet 1995;4:59-69.
6. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 1986;83:2934-8.
7. Pinkel D, Landegent J, Collins C, et al. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 1988;85:9138-42.
8. McDermid HE, Budarf ML, Emanuel BS. Long-range map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint. Genomics 1993;18:308-18.
9. Budarf JL, Eckman B, Michaud D, et al. Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 1996;35:275-88.
10. Dumanski JP, Carlbom E, Collins VP, et al. A map of 22 loci on human chromosome 22. Genomics 1991;11:709-19.
11. Phelan MC, Thomas GR, Saul RA, et al. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet 1992;43:872-6.
12. Wong AC, Bell CJ, Dumanski JP, Budarf ML, McDermid HE. Molecular characterization of a microdeletion at 22q13.3. Am J Hum Genet. 1995;57:A130.
13. Wong AC, Ning Y, Flint J, et al. Molecular characterization of a 130 kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet 1997;60:113-20.
14. Kessel E, Pfeiffer RA, Welling P. Translocation 22/Y familiale et trisomie partielle autosomique chez une jeune fille. J Genet Hum 1979;27:45-51.
15. Johnson VP. Duplication of the distal part of the long arm of chromosome 1. Am J Med Genet 1991;39:258-69.
16. Herman GE, Greenberg F, Ledbetter DH. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet 1988;29:909-15.
17. Ning Y, Rosenberg M, Biesecker LG, Ledbetter DH. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Hum Genet 1996;97:765-9.
18. National Institutes of Health and Institute of Molecular Medicine Collaboration. A complete set of human telomeric probes and their clinical application. Nat Genet 1996;14:86-9.
19. Collins J, Cole CG, Smink LJ, et al. A high-density YAC contig map of human chromosome 22. Nature 1995;377:367-79.