Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in First cousins

American Journal of Medical Genetics

Volumn 69, Issue 2, 1997, Pages 188-193

  Doheny, Kimberly F ^a,b,f   Rasmussen, Sonja A ^a,e   Rutberg, Julie ^a   Semenza, Gregg L ^a   Stamberg, Judith ^c   Schwartz, Marcia ^d   Batista, Denise A S ^a   Stetten, Gail ^a   Thomas, George H ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^d Patuxent Medical Group   (United States)

^e UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^f PROMEGA CORPORATION   (United States)

Author keywords

chromosome 10; del(10)(q21.2q22.1); insertion; translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 10; CHROMOSOME 12; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME INSERTION; CHROMOSOME TRANSLOCATION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; FEMALE; HEART MURMUR; HUMAN; INFANT; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; TELECANTHUS;

CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 12; FAMILY; FEMALE; HUMANS; INFANT; PEDIGREE; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 0031052450     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970317)69:2<188::AID-AJMG14>3.0.CO;2-H     Document Type: Article

References (31)

1. Abuelo DN, Barsel-Bowers G, Richardson A (1988): Insertional Translocations: Report of two new families and review of the literature. Am J Med Genet 31:319-329.
2. Batiste DAS, Pai GS, Stetten G (1994): Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet 53:255-263.
3. Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L (1995): FISH analysis in Prader-Willi and Angelman syndrome patients. Am J Med Genet 56:224-228.
4. Bowen P, Fitzgerald PH, Gardner RJM, Biederman B, Veale AMO (1983): Duplication 8q syndrome due to familial chromosome ins(10;8)-(q21;q212q22). Am J Med Genet 14:635-646.
5. Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL (1974): Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet 11:353-363.
6. Davis J, Kardon NB, Selman JE (1982): De novo 10q interstitial deletion. Am J Hum Genet 34:122A.
7. De Michelena MI, Campos PJ (1991): A new case of proximal 10q partial trisomy. J Med Genet 28:205-206.
8. Derksen C, Ramdhanie R, Wood M, Winsor E (1991): Interstitial deletion in 10q with no apparent abnormalities. App Cytogenet 17:69.
9. Edelhoff S, Maier B, Trautmann U, Pfeiffer RA (1991): Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation. Ann Genet 34:85-89.
10. Fryns JP, Bulcke J, Verdu P, Carton H, Kleczkowska A, Van den Berghe H (1991): Apparent late-onset Cockayne Syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). Am J Med Genet 40:343-344.
11. Fryns JP, Kleczkowska A, Igodt-Ameye L, Van den Berghe H (1987): Proximal duplication of the long arm of chromosome 10 (10q11.2-10q22): a distinct clinical entity. Clin Genet 32:61-65.
12. Glover G, Gabarron J, Lopez-Ballester J (1987): De novo 10q(q21q22) interstitial deletion. Hum Genet 76:205.
13. Gopal VV, Roop H, Carpenter NJ (1995): Diagnosis of microdeletion syndromes: high-resolution chromosome analysis versus fluorescence in situ hybridization. Am J Med Sci 309:208-212.
14. Gosden JR (Ed.) (1994): "Chromosome Analysis Protocols," Methods in Molecular Biology, vol 29. NJ: Humana Press, pp 5-6.
15. Hegemann KM, Spikes AS, Orr-Urtreger A, Shaffer LG (1996): Segregation of a paternal insertional translocation results in a partial 4q monosomy or 4q trisomy in two siblings. Am J Med Genet 61:10-15.
16. Koivisto M, Herva R, Linna S (1981): Serial duplication of 10(q21-q22) in a mentally retarded boy with congenital malformations. Hum Genet 57: 224-225.
17. Ledbetter D (1992): Cryptic translocations and telomere integrity. Am J Hum Genet 51:451-456.
18. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR (1995): Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 57:49-53.
19. Marks J, Yu C, Curry C, Zorn E (1991): Cytogenetic findings at variance with referring diagnosis. App Cytogenet 17:62.
20. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray JW (1988): Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
21. Pinkel D, Straume T, Gray JW (1986): Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
22. Ray M, Hunter AGW, Josifek K (1980): Interstitial deletion of the long arm of chromosome 10. Ann Genet 23:103-104.
23. Reinthaller A (1985): Tandem duplication of 10(q21-q22) in a mentally deficient man. Clin Genet 28:394-396.
24. Sawyer JR, Jones E, Hawks FF, Quirk JG, Cunniff C (1994): Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15). Am J Med Genet 49:422-427.
25. Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F (1993): Familial interstitial deletion 11(p11.2p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am J Med Genet 45:581-583.
26. Surana R, Park M (1980): Trisomy 10q due to de novo duplication of q21 and q22 bands. Am J of Hum Genet 32:90A.
27. Toomey KE, Mohandas T, Sparkes RS, Kaback MM, Rimoin DL (1978): Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet 15:382-387.
28. Van de Vooren MJ, Planteydt HT, Hagemeijer A, Peters-Slough MF, Timmerman MJ (1984): Familial balanced insertion (5;10) and monosomy and trisomy (10)(q24.2 → q25.3). Clin Genet 25:52-58.
29. Vogel W, Back E, Imm W (1978): Serial duplication of 10(q11-q22) in a patient with minor congenital malformations. Clin Genet 13:159-163.
30. Zenger-Hain JL, Roberson J, Van Dyke D, Weiss L (1993): Interstitial deletion of chromosome 10, del(10)(q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies. Am J Med Genet 46:438-440.
31. Zhao A, Lee C, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, Caskey CT, Patel PI (1995): The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4:589-597.