A new genomic mechanism leading to cri-du-chat syndrome

American Journal of Medical Genetics, Part A

Volumn 140, Issue 24, 2006, Pages 2714-2720

  South, Sarah T ^a,c   Swensen, Jeffrey J ^b   Maxwell, Teresa ^a   Rope, Alan ^a   Brothman, Arthur R ^a,b   Chen, Zhong ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

^c UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

5p deletion; Cri du chat syndrome; Dicentric chromosome; Intrachromosomal insertion; Paracentric inversion

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CAT CRY SYNDROME; CHILD; CHROMOSOME 5; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME INSERTION; CHROMOSOME REARRANGEMENT; DICENTRIC CHROMOSOME; DIFFERENTIAL DIAGNOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENETIC RISK; GENOMICS; HUMAN; LINKAGE ANALYSIS; MOLECULAR MECHANICS; PARACENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; TELOMERE;

ADULT; BASE SEQUENCE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; DNA PRIMERS; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MICROSATELLITE REPEATS; MODELS, GENETIC;

EID: 33845265870     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31496     Document Type: Article

References (18)

1. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. 2003. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12:2153-2165.
2. Beaujard MP, Jouannic JM, Bessieres B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoi MF. 2005. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenat Diagn 25:451-455.
3. Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. 2000. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. Eur J Hum Genet 8:597-603.
4. Brownstein MJ, Carpten JD, Smith JR. 1996. Modulation of non-templated nucleotide addition by Taq DNA polymerase: Primer modifications that facilitate genotyping. Biotechniques 20:1004-1006, 1008-1010.
5. Gardner RJM, Sutherland GR. 2004. Chromosome Abnormalities and Genetic Counseling. Arno G, Motulsky MB, Harper PS, Scriver C, Epstein CJ, Hall JG, editors. New York: Oxford University Press. 577 p.
6. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
7. Hoo JJ, Chao M, Szego K, Rauer M, Echiverri SC, Harris C. 1995. Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin. Am J Med Genet 58:299-304.
8. Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A. 1998. Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Eur J Hum Genet 6:439-444.
9. Krepischi-Santos AC, Vianna-Morgante AM. 2003. Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. Am J Med Genet Part A 117A:41-46.
10. Madan K, Menko FH. 1992. Intrachromosomal insertions: A case report and a review. Hum Genet 89:1-9.
11. 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.
12. Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. 2001. Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation. J Med Genet 38: 151-158.
13. Niebuhr E. 1978. The Cri du Chat syndrome: Epidemiology, cytogenetics, and clinical features. Hum Genet 44:227-275.
14. Pettenati MJ, Rao PN, Phelan MC, Grass F, Rao KW, Cosper P, Carroll AJ, Elder F, Smith JL, Higgins MD, Lanman JT, Higgins RR, Butler MG, Luthardt F, Keitges E, Jackson-Cook C, Brown J, Schwartz S, Van Dyke DL, Palmer CG. 1995. Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet 55:171-187.
15. Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. Molecular characterization of inv dup del(8p): Analysis of five cases. Am J Med Genet Part A 128A:133-137.
16. Sutherland GR, Callen DF, Gardner RJ. 1995. Paracentric inversions do not normally generate monocentric recombinant chromosomes. Am J Med Genet 59:390-392.
17. Valcarcel E, Benitez J, Martinez P, Rey JA, Sanchez Cascos A. 1983. Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5. Hum Genet 63:78-81.
18. Van Buggenhout G, Maas NM, Fryns JP, Vermeesch JR. 2004. A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: Clinical, cytogenetic, and molecular findings. Am J Med Genet Part A 131A:186-189.