Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 226-231

  Maurin, M L ^a   Labrune, P ^b   Brisset, S ^a   Le Lorc'h, M ^c   Pineau, D ^a   Castel, C ^b   Romana, S ^c   Tachdjian, G ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Array CGH; Chromosome 4; Pericentric inversion; Recombinant

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 4; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEART DISEASE; HUMAN; INFANT; KARYOTYPE; MUSCLE HYPOTONIA; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 4; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INVERSION, CHROMOSOME; MUSCULAR DISEASES; PEDIGREE; RECOMBINATION, GENETIC; SEQUENCE DELETION;

EID: 59849084120     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32603     Document Type: Article

References (18)

1. Battaglia A, Brothman AR, Carey JC. 2002. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4. Am J Med Genet 112:103-106.
2. Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers HH, Maas N, Van Buggenhout G, Tommerup N, Tümer Z. 2006. 4q35 deletion and 10p15 duplication associated with immunodeficiency. Am J Med Genet Part A 140A:2231-2235.
3. Dallapiccola B, Capra L, Preto G, Covic M, Dutrillaux B. 1974. Pericentric inversion of chromosome 4:inv (4) (p13, q35) and trisomy of the short branch of chromosome 4 due to recombination aneusomy. Ann Genet 17:115-118.
4. Dufke A, Eggermann K, Balg S, Stengel-Rutkowski S, Enders H, Kaiser P. 2000. A second case of inv(4)pat with both recombinants in the offspring: rec dup (4q) in a girl with Wolf-Hirschhorn syndrome, rec dup (4p). Cytogenet Cell Genet 91:85-89.
5. Garcia-Heras J, Martin J. 2002. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): Case report and review. Am J Med Genet 109:226-230.
6. Gardner RJM, Sutherland GR. 2004. Chromosome abnormalities and genetic counselling, 3rd edition. New York: Oxford university press. p 577.
7. Hirsch B, Baldinger S. 1993. Pericentric inversion of chromosome 4 giving rise to dup (4p), dup (4q) recombinants within a single kindred. Am J Med Genet 45:5-8.
8. Kleczkowska A, Fryns JP, van den Berghe H. 1992. Trisomy of the short arm of chromosome 4: The changing phenotype with age. Ann Genet 35:217-223.
9. Pashmforoush M, Pomiès P, Peterson KL, Kubalak S, Ross J Jr, Hefti A, Aebi U, Beckerle MC, Chien KR. 2001. Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7:591-597.
10. Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS. 1995. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr 154:425-431.
11. Pomiès P, Pashmforoush M, Vegezzi C, Chien KR, Auffray C, Beckerle MC. 2007. The cytoskeleton-associated PDZ-LIM protein, ALP, acts on serum response factor activity to regulate muscle differentiation. Mol Biol Cell 18:1723-1733.
12. Rethore MO, Dutrillaux B, Job JC, Lejeune J. 1974. Trisomy 4p due to recombination aneusomy of an inversion 4 (p 14, q 35). Ann Genet 17:109-114.
13. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. New-York: Walter de Gruyter. p. 966.
14. Stembalska A, Laczmanska I, Schlade-Bartusiak K, Czemarmazowicz H, Murawski M, Sasiadek M. 2007. Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features. Eur J Pediatr 166:67-71.
15. Taieb D, Roignot J, André F, Garcia S, Masson B, Pierres A, Iovanna JL, Soubeyran P. 2008. ArgBP2-dependent signaling regulates pancreatic cell migration, adhesion, and tumorigenicity. Cancer Res 68:4588-4596.
16. Tsai CH, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacial syndrome and del(4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype. Am J Med Genet 82:336-339.
17. Wang B, Golemis EA, Kruh GD. 1997. ArgBP2, a multiple Src homology 3 domain-containing, Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed cells and localized in stress fibers and cardiocyte Z-disks. J Biol Chem 272:17542-17550.
18. Wilson MG, Towner JW, Coffin GS, Forsman I. 1970. Inherited pericentric inversion of chromosome no. 4. Am J Hum Genet 22:679-690.