Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm

American Journal of Medical Genetics

Volumn 61, Issue 1, 1996, Pages 21-25

  Reish, Orit ^a   Berry, Susan A ^a,b   Dewald, Gordon ^c   King, Richard A ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c MAYO CLINIC   (United States)

Author keywords

critical region; deletion 20q; duplication 7p; phenotype

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7P; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CONGENITAL MALFORMATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030044465     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960102)61:1<21::aid-ajmg4>3.0.co;2-%23     Document Type: Article

References (33)

1. Berry AC, Honeycombe J, Macoun SJR (1979): Two children with partial trisomy for 7p. J Med Genet 16:320-321.
2. Cantú JM, Rivas F, Ruiz C, Barajas LO, Moller M, Rivera H (1985): Trisomy 7p due to mosaic normal/dir dup(7)(p13→p22). Syndrome delineation, critical region segment assignment, and a comment on duplications. Ann Genet (Paris) 28:254-257.
3. Carnevale A, Frías S, del Castillo V (1978): Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14) (p11;p11). Clin Genet 14:202-206.
4. Caspersson T, Hultén M, Lindsten J, Zech L (1971): Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man. Ann Genet (Paris) 14:143-144.
5. Delicado A, Escribano E, Pajares IL, de Bustamante AD, Carrasco S (1991): A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36). J Med Genet 28:126-127.
6. Eriksson B, Fraccaro M, Hultén M, Lindsten J, Tiepolo L (1968): Unusual chromosomal mosaic (46,XX/46,XX,Cp+) in a girl with multiple malformations. Ann Genet (Paris) 11:6-10.
7. Fraisse J, Bertheas MF, Frère F, Lauras B, Rolland MO, Brizard CP (1981): Un nouveau syndrome: del(20)(q13→qter). Localisation segmentaire de gène de l'adénosine déaminase (ADA). Ann Genet (Paris) 24:216-219.
8. Frézal J, Schinzel A (1990): Report of the Committee on Clinical Disorders and Chromosomal Deletion Syndromes. Cytogenet Cell Genet 55:321-357.
9. Gabarrón J, Glover G, Jiménez A, Salas P, Pérez-Bryan J, Parra MJ (1988): Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype. Clin Genet 33:211-219.
10. Kikkawa K, Narahara K, Tsuji K, Kubo T, Yokoyama Y, Seino Y (1993): Is loss of band 7p21 really critical for manifestation of craniosynostosis in 7p-? Am J Med Genet 45:108-110.
11. Larson LM, Wasdahl WA, Jalal SM (1977): Partial trisomy 7p associated with familial 7p;22q translocation. J Med Genet 14:258-261.
12. Lewanda AF, Cohen MM Jr, Jackson CE, Taylor EW, Li X, Beloff M, Day D, Clarren SK, Ortiz R, Garcia C, Hauselman E, Figueroa A, Wulfsberg E, Wilson M, Warman ML, Padwa BL, Whiteman DAH, Mulliken JB, Jabs EW (1994): Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of JacksonWeiss and Crouzon syndrome loci from 7p. Genomics 19:115-119.
13. Miller M, Kaufman G, Reed G, Bilenker R, Schinzel A (1979): Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15→7p21. Am J Med Genet 4:323-332.
14. Milunsky JM, Wyandt HE, Milunsky A (1989): Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet 33:364-368.
15. Moore CM, Pfeiffer RA, Craig-Holmes AP, Scott CI Jr, Meisel-Stosiek M (1982): Partial trisomy 7p in two families resulting from different balanced translocations. Clin Genet 21:112-121.
16. Odell JM, Seibert JR, Bradley C, Salk D (1987): Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base. Am J Med Genet 27:687-692.
17. Ohdo S, Suzumori K, Madokoro H, Sonoda T, Hayakawa K (1983): Partial trisomy for 7p due to maternal balanced translocation. Jpn J Hum Genet 28:297-300.
18. Omer FBS, Calzolari A, Cecconi A, Uzielli MLG (1990): Trisomy 7p: association with several craniocerebral anomalies and spongy degeneration. Pathologica 82:543-548.
19. Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH (1993): A case of de novo translocation 7;10 and the duplication 7p, deletion 10p phenotype. Ann Genet (Paris) 36: 217-220.
20. Petersen MB, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H (1987): New assignment of the adenosine deaminase gene locus to chromosome 20q13.11 by study of a patient with interstitial deletion 20q. J Med Genet 24:93-96.
21. Porfirio B, Valorani MG, Giannotti A, Sabetta G, Dallapiccola B (1987): Ring 20 chromosome phenotype. J Med Genet 24:375-377.
22. Ramer JC, Mowrey PN, Ladda RL (1991): Malformations in a child with dup(7pter-p15.1) and del(7q36-qter) as a result of familial pericentric inversion. Clin Genet 39:442-450.
23. Reardon W, McManus SP, Summers D, Winter RM (1993): Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. Am J Med Genet 47:633-636.
24. Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM Jr, Jabs EW (1993): Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet 47:637-639.
25. Rockman-Greenberg C, Ray M, Evans JA, Canning N, Hamerton JL (1982): Homozygous Robertsonian translocations in a fetus with 44 chromosomes. Hum Genet 61:181-184.
26. Roskes EJ, Boughman JA, Schwartz S, Cohen MM (1990): Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review. Clin Genet 38:198-210.
27. Schmidt A, Gillessen-Kaesbach G (1987): Duplication 7p. A problem in karyotype-phenotype correlation. Ann Univ Sarav Med [Suppl] 7:271-272.
28. Schömig-Spingler M, Schmid M, Brosi W, Grimm T (1986): Chromosome 7 short arm deletion, 7p21→pter. Hum Genet 74:323-325.
29. Shabtai F, Ben-Sasson E, Arieli S, Grinblat J (1993): Chromosome 20 long arm deletion in an elderly malformed man. J Med Genet 30: 171-173.
30. Šubrt I, Kozák J, Hniková O (1973): Microdensitometric identification of the pericentric inversion of chromosome no. 2 and of duplication of the short arm of chromosome no. 7 in a reexamined case. Hum Hered 23:331-337.
31. Tsuji K, Narahara K, Kikkawa K, Murakami M, Yokoyama Y, Ninomiya S, Seino Y (1994): Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. Am J Med Genet 49:98-102.
32. Willner JP, Paciuc S, Cristian S, Hsu LYF, Murphy R, Hirschhorn K (1977): The 7p partial trisomy syndrome. Pediatr Res 11:530 (abstract).
33. Zerres K, Schwanitz G, Gellissen K, Schroers L, Sohler R (1989): Duplication 7p de novo and literature review. Ann Genet (Paris) 32:225-229.