Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 355-360

  Boyd, Luke J ^a   Livingston, Joseph S ^b   Brown, Michael G ^a   Lawce, Helen J ^a   Gilhooly, Joseph T ^c   Wildin, Robert S ^a   Linck, Leesa M ^a,d   Magenis, R Ellen ^a,c   Pillers, De Ann M ^a,c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d KAISER PERMANENTE   (United States)

Author keywords

Chromosome 22q; Chromosome stalk; Duplication; Nucleolar organizing region (NOR); Partial trisomy; Pericentric inversion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CHROMOSOME Q BAND; CHROMOSOME R BAND; CHROMOSOME SIZE; CHROMOSOME TRANSLOCATION; CLEFT LIP PALATE; CROSSING OVER; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE PROBE; GENETIC RECOMBINATION; HUMAN; HYPERTELORISM; INFANT; KARYOTYPE 46,XX; MEIOSIS; PRIORITY JOURNAL; SILVER STAINING;

EID: 27444438546     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30895     Document Type: Article

References (23)

1. Aleck KA, Argueso L, Stone J, Hackel J, Erickson R. 1999. True hermaphroditism with partial duplication of chromosome 22 and without SRY. Am J Med Genet 85:2-4.
2. Applied Imaging Corporation. 2000. Cytovision 2.7 Image Analysis Work-station, Santa Clara, CA.
3. Arnheim N, Krystal M, Schmickel R, Wilson G, Ryder O, Zimmer E. 1980. Molecular evidence for genetic exchanges among ribosomal genes on nonhomologous chromosomes in man and apes. Proc Natl Acad Sci USA 77:7323-7327.
4. Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K. 1995. Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am J Med Genet 58:389-394.
5. Bruns GAP, Mintz BJ, Leary AC, Reginz VM, Gerald PS. 1978. Expression of human arylsulfatase-A in man-hamster somatic cell hybrids. Cyto Genet Cell Genet 22:182-185.
6. Cantu JM, Hernandez A, Vaca G, Plascencia L, Martinez-Basalo C, Ibarra B, Rivera H. 1981. Trisomy 22q12 → qter 'Aneusomie de recombinaison' of a pericentric inversion. Ann Genet 24:37-40.
7. Caspersson T, Lomakka G, Zech L. 1971. The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas 67:89-102.
8. Erickson JM, Schmickel RD. 1985. A molecular basis for discrete size variation in human ribosomal DNA. Am J Hum Genet 37:311-325.
9. Fryns JP, Jaeken J, Van Den Berghe H. 1979. Partial trisomy 22q with elevated arylsulfatase-A activity. Ann Genet 22:168-170.
10. Fujimoto A, Wilson MG, Towner JW. 1983. Duplication of the segment q12.2 → qter of chromosome 22 due to paternal inversion 22 (p13q12.2). Hum Genet 63:82-84.
11. Howell WM, Denton TE, Diamond JR. 1975. Differential staining of the satellite regions of human acrocentric chromosomes. Experientia 31:260-262.
12. ISCN. 1995. An International System for Human Cytogenetic Nomenclature. In: Mitelman F, editor. Basel: S. Karger.
13. Krystal M, D'Eustachio P, Ruddle FH, Arnheim N. 1981. Human nucleolus organizers on nonhomologous chromosomes can share the same ribosomal gene variants. Proc Natl Acad Sci USA 78:5744-5748.
14. Olson SB, Magenis RE, Rowe SI, Lovrien EW. 1983. Chromosome heteromorphism analysis in cases of disputed paternity. A J Hum Genet 15:47-55.
15. Online Mendelian Inheritance in Man, OMIM (TM). 2003. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
16. Rivera H, Garcia-Esquivel L, Romo MG, Perez-Garcia G, Martinez Y, Martinez R. 1988. The 22q distal trisomy syndrome in a recombinant child. Ann Genet 31:47-49.
17. Sahar E, Latt SA. 1980. Energy transfer and binding competition between dyes used to enhance staining differentiation in metaphase chromosomes. Chromosoma 79:1-28.
18. Seabright M. 1971. A rapid banding technique for human chromosomes. Lancet 2:971-972.
19. Smith GP. 1976. Evolution of repeated DNA sequences by unequal crossover. Science 191:528-535.
20. Tonk JS, Jesurun CA, Morgan DL, Lockhart LH, Velageliti GVN. 2004. Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2). Am J Med Genet 124A:92-95.
21. Warburton D, Atwood KC, Henderson AS. 1976. Variation in the number of genes for rRNA among human acrocentric chromosomes: correlation with frequency of satellite association. Cytogenet Cell Genet 17:221-230.
22. Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS. 1985. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome. J Med Genet 22:283-287.
23. Wieczorek D, Holtvogt J, Thonig S, Gillessen-Kaesbach G. 1998. A female patient with partial duplication 22(q13-qter). Clin Dys 7:289-294.