Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: Clinical features and genetic abnormalities

Chinese Journal of Medical Genetics

Volumn 28, Issue 3, 2011, Pages 247-250

  Xiao, Bing ^a   Zhang, Jing Min ^a   Ji, Xing ^a   Jiang, Wen Ting ^a   Hu, Juan ^a   Tao, Jiong ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Array comparative genomic hybridization; Insertion translocation; Mental retardation; Partial trisomy 8p; Reciprocal translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 3; CHROMOSOME 8; CHROMOSOME 8P; CHROMOSOME BANDING PATTERN; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; CRANIOFACIAL MALFORMATION; GENE MAPPING; HUMAN; INSERTIONAL CHROMOSOME TRANSLOCATION; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPING; MENTAL RETARDATION MALFORMATION SYNDROME; PARTIAL TRISOMY; PARTIAL TRISOMY 8P; RECIPROCAL CHROMOSOME TRANSLOCATION; SKELETON MALFORMATION;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; PHENOTYPE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 79959564757     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2011.03.002     Document Type: Article

References (13)

1. Feldman GL, Weiss L, Phelan MC, et al. Inverted duplication of 8p: ten new patients and review of the literature. Am J Med Genet, 1993,47:482-486. (Pubitemid 23286517)
2. Sklower-Brooks SS, Genovese M, Gu H, et al. Normal adaptive function with learning disability in duplication 8p including band p22. Am J Med Genet, 1998,78:114-117. (Pubitemid 28298466)
3. Pabst B, Arslan-Kirchner M, Schmidtke J, et al. The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature. Cytogenet Genome Res, 2003,103:3-7. (Pubitemid 38353276)
4. Han X, Zhang JM, Jiang WT, et al. Cytogenetic and molecular genetic study of a case with 8p inverted duplication deletion syndrome. Chin J Med Genet, 2010, 27:361-366.
5. van Hemel JO, Eussen HJ. Interchromosomal insertions. Identification of five cases and a review. Hum Genet, 2000,107: 415-432.
6. Moog U, Engelen JJ, Albrechts JC, et al. Familial dup(8) (p12p21. 1): mild phenotypic effect and review of partial 8p duplications. Am J Med Genet, 2000,94:306-310.
7. de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, et al. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet, 1995, 59:369-374.
8. Plomp AS, Engelen JJ, Albrechts JC, et al. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21. 1;q22. 3). J Med Genet, 1998, 35:604-608. (Pubitemid 28302285)
9. Chiyo HA, Nakagome Y, Matsui I, et al. Two cases of 8p trisomy in one sibship. Clin Genet, 1975, 7:328-333.
10. Sarkozy A, Esposito G, Conti E, et al. CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects. Am J Med Genet A, 2005, 139:236-238. (Pubitemid 41740598)
11. Okubo A, Miyoshi O, Baba K, et al. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet, 2004, 41:e97.
12. Wat MJ, Shchelochkov OA, Holder AM, et al. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A, 2009, 149:1661-1677.
13. Gardner RJM, Sutherland GR. Parent with a chromosomal abnormality. In: Gardner RJM, Sutherland GR. eds. Chromosome abnormalities and genetic counseling. 3rd ed. Austrilia: Oxford University Press, 2004. 59-163.