Chromosome 6 between-arm intrachromosomal insertion with intrasegmental double inversion: A four-break model

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 209-211

  Wang, Jia Chi ^a,b   Dang, Linda ^a   Fisker, Thomas ^a  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

BLOOD ANALYSIS; CHROMOSOME 6; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHROMOSOME INVERSION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LETTER; PRIORITY JOURNAL; BACTERIAL ARTIFICIAL CHROMOSOME; BETWEEN ARM INTRACHROMOSOME INSERTION; CASE REPORT; CHROMOSOME G BAND; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; GENETIC MARKER; INTRASEGMENTAL DOUBLE INVERSION; MOLECULAR MODEL; MOLECULAR PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME BANDING; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 6; HUMANS; MODELS, GENETIC;

EID: 75149123483     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33161     Document Type: Letter

References (10)

1. Ardalan A, Prieur M, Choiset A, Turleau C, Goutieres F, Girard-Orgeolet S. 2005. Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet Part A 138A:288-293.
2. Farrell SA, Chow G. 1992. Intrachromosomal insertion of chromosome 7. Clin Genet 41:299-302.
3. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12:996-1006.
4. Madan K. 1995. Paracentric inversions: A review. Hum Genet 96:503-515.
5. Madan K, Menko FH. 1992. Intrachromosomal insertions: A case report and a review. Hum Genet 89:1-9.
6. Madan K, Nieuwint AW. 2002. Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question. Am J Med Genet 107:340-343.
7. Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. 1992. Ocular albinism in a male with del (6)(q13-q15): Candidate region for autosomal recessive ocular albinism? Am J Med Genet 42:700-705.
8. South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. 2006. A new genomic mechanism leading to cri-du-chat syndrome. Am J Med Genet Part A 140A:2714-2720.
9. Starke H, Senger G, Kossakiewicz M, Tittelbach H, Rau D, Rubtsov N, Trifonov V, Heller A, Hartmann I, Claussen U, Liehr T. 2001. Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB). Prenat Diagn 21:1049-1052.
10. Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, Macleod PM, Yong SL, Nowaczyk MJ, Eydoux P. 2009. Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. Am J Med Genet Part A 149A:372-379.