Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2→q24.3)] Inherited from a mother mosaic for the abnormality

American Journal of Medical Genetics

Volumn 61, Issue 1, 1996, Pages 16-20

  Tonk, Vijay ^a,e   Schneider, Nancy R ^a   Delgado, Mauricio R ^a,c   Mao, Jen I ^d   Schultz, Roger A ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^d Texas Tech University Health Sciences Center ^*  (United States)

^e TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

Author keywords

cytogenetics; dup(10q) syndrome; mosaicism; partial chromosome duplication

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME PAINTING; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MALE; PRIORITY JOURNAL; SIBLING;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; COSMIDS; DEVELOPMENTAL DISABILITIES; FEMALE; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLIGENCE TESTS; KARYOTYPING; MALE; MOSAICISM; MOTHERS; TRISOMY;

EID: 0030061618     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960102)61:1<16::AID-AJMG3>3.0.CO;2-V     Document Type: Article

References (28)

1. Abeliovich D, Dagan J, Levy A, Steinberg A, Zlotogora J (1993): Isochromosome 18p in a mother and her child. Am J Med Genet 46:392-393.
2. Back E, Kosmutzky J, Schuwald A, Hameister H (1979): Two cases of partial trisomy 10q in the same family caused by parental direct insertion [ins.(15;10)(q15;q24q26)]. Ann Genet 22:195-198.
3. Bartsch O, Konig U, Petersen MB, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E (1993): Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome. Hum Genet 92:127-132.
4. de Michelena MI, Campos PJ (1991): A new case of proximal 10q partial trisomy. J Med Genet 28:205-206.
5. 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.
6. Jenderny J, Caliebe A, Beyer C, Grote W (1993): Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX,+r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. J Med Genet 30:964-965.
7. Johnson VP, Sutliff WC (1994): Duplication 10q confirmed by DNA in situ hybridization. Am J Med Genet 52:184-187.
8. Jones KL (1988): "Smith's Recognizable Patterns of Human Malformation," 4th edition, Philadelphia: W. B. Saunders, pp. 50-51.
9. Kaffe S, Hsu LYF, Hirschhorn K (!974): Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome. J Med Genet 11:378-381.
10. Klep-de Pater JM, Bijlsma JB, de France HF, Leschot NJ, Duijndamvan den Berge M, van Hemel JO (1979): Partial trisomy 10q. A recognizable syndrome. Hum Genet 46:29-40.
11. Koivisto M, Herva R, Linna S-L (1981): Serial duplication of 10 (q21→q22) in a mentally retarded boy with congenital malformations. Hum Genet 57:224-225.
12. Lichter P, Cremer T, Bordon J, Manuelitis L, Ward DC (1988): Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80:224-234.
13. Matalon R, Supple P, Wyandt H, Rosenthal IM (1990): Transmission of ring 14 chromosome from mother to two sons. Am J Med Genet 36:381-385.
14. McKusick VA (1994): Online Mendelian Inheritance in Man (machine-readable data file), update June 27, 1994.
15. Neely K, Mets MB, Wong P, Szego K (1988): Ocular findings in partial trisomy 10q syndrome. Am J Ophthalmol 106:82-87.
16. Pfeiffer RA, Schutz C (1993): Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities. Ann Genet 36:163-166.
17. Pison H, Sele B, Salvat J, Pasquier D, Jalbert H, Jalbert P (1982): Mécanismes de formation des duplications a propos d'une observation de duplication 10q22→q25. Ann Genet 25:137-140.
18. Priest JH, Brantley KE, Blackston RD (1977): Parental mosaicism as a cause of Down syndrome. J Pediatr 90:786-788.
19. Reinthaller A (1985): Tandem duplication of 10(q21-q22) in a mentally deficient man. Clin Genet 28:394-396.
20. Seabright M (1971): A rapid banding technique for human chromosomes. Lancet 2:971-972.
21. Taysi K, Yang V, Monaghan N, Beraha N (1983): Partial trisomy 10q in three unrelated patients. Ann Genet 26:79-85.
22. Tomkins DJ, Gitelman BJ, Roberts MH (1983): Confirmation of a de novo duplication, dup(10)(q24→q26), by GOT1 gene dosage studies. Hum Genet 63:369-373.
23. 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.
24. 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.
25. Yunis JJ (1976): High resolution of human chromosomes. Science 191:1268-1270.
26. Yunis JJ, Sanchez O (1974): A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr 84:567-570.
27. Zheng C-j, Ma NS-F, Dorman TE, Wang M-T, Braunschweiger K, Soares L, Schuster MK, Rothschild CB, Bowden DW, Torrey D, Keith TP, Moir DT, Mao J-i (1994): Development of 124 sequence tagged sites (STSs) and cytogenetic localization of 217 cosmids for human chromosome 10. Genomics 22:55-67.
28. Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL (1993): Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 47:504-511.