Partial trisomy of chromosome 10(q22-q24) due to maternal insertional translocation (15;10)

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 190-193

  Han, J Y ^a   Kim, K H ^a   Jun, H J ^a   Je, G H ^a   Glotzbach, C D ^b   Shaffer, L G ^b  

^a Dong A University College of Medicine   (South Korea)

^b WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

FISH; Insertional translocation; Intrauterine growth retardation; Partial trisomy 10q; Prenatal ascertainment

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; INCIDENCE; INSERTIONAL CHROMOSOME TRANSLOCATION; INTRAUTERINE GROWTH RETARDATION; MALE; NEWBORN; PARTIAL TRISOMY 10; PRENATAL SCREENING; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; TRANSLOCATION, GENETIC; TRISOMY;

INSERTION SEQUENCES;

EID: 9644262756     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30307     Document Type: Article

References (16)

1. Aalfs CM, Hoovers JMN, Nieste-Otter MA, Mannens MMAM, Hennekam RCM, Leschot NJ. 1995. Further delineation of the partial proximal trisomy 10q syndrome. J Med Genet 32:968-971.
2. Abuelo DM, Barsel-Bowers G, Richardson A. 1988. Insertional translocations: Report oftwo new families and review of the literature. Am J Med Genet 31:319-329.
3. 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.
4. De Michelena MI, Campos PJ. 1991. A new case of proximal 10q partial trisomy. J Med Genet 28:205-206.
5. de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. 2003. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 12:1959-1971.
6. Doheny KF, Rasmussen SA, Rutberg J, Semenza GL, Stamberg J, Schwartz M, Batista DAS, Stetten G, Thomas GH. 1997. Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins. Am J Med Genet 69:188-193.
7. 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.
8. Garcia-Heras J, Martin JA, Witchel SF, Scacheri P. 1997. De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: Case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR). J Med Genet 34:242-245.
9. Jones KL. 1997. Smith's recognizable patterns of human malformations. Philadelphia: W.B. Saunders. p 54-55.
10. Klep-de Pater JM, Bijlsma JB, de France HF, Leschot NJ, Duijndam-Van den Berge M, Van Hemel JO. 1979. Partial trisomy 10q. A recognizable syndrome. Hum Genet 46:29-40.
11. Lam FWF, Chan WK, Lam STS, Chu WP, Kwong NS. 2000. Proximal 10q trisomy: A new case with anal atresia. J Med Genet 37:E24.
12. Lurie IW. 2002. Distal trisomy 10q and limb defects. Ann Genet 45:127-129.
13. Migliori MV, Ciaschini AM, Discepoli G, Abbasciano V, Barbato M, Pannone E. 2002. Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3 → qter defined by FISH. Ann Genet 45:9-12.
14. Neely K, Mets MB, Wong P, Szego K. 1988. Ocular findings in partial trisomy 10q syndrome. Am J Ophthalmol 106:82-87.
15. Van Hemel JO, Eussen HJ. 2000. Interchromosomal insertions. Identification of five cases and a review. Hum Genet 107:415-432.
16. 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.