De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation

Cytogenetic and Genome Research

Volumn 134, Issue 3, 2011, Pages 243-248

  Bartels, E ^a   Draaken, M ^a   Kazmierczak, B ^b   Spranger, S ^b   Schramm, C ^a   Baudisch, F ^a   Nothen M M ^a   Schmiedeke, E ^b   Ludwig, M ^a   Reutter, H ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Hospital Bremen Mitte   (Germany)

Author keywords

Anorectal malformation; dup18p del18q; Molecular karyotyping; SNP array

Indexed keywords

ADOLESCENT; ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18P; CHROMOSOME 18Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; COMPLEX CHROMOSOMAL REARRANGEMENT; DE GROUCHY SYNDROME; GENETIC DISORDER; HUMAN; MALE; MEDICAL HISTORY; NEWBORN; PARTIAL MONOSOMY; PARTIAL TRISOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ANAL CANAL; CHROMOSOMES, HUMAN, PAIR 18; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; RECTUM; TRISOMY;

EID: 79959780761     PISSN: 14248581     EISSN: 14219794     Source Type: Journal    
DOI: 10.1159/000328833     Document Type: Article

References (25)

1. Anton E, Blanco J, Egozcue J, Vidal F: Sperm studies in heterozygote inversion carriers: A review. Cytogenet Genome Res 111: 297-304 (2005). (Pubitemid 41414482)
2. Chen CP, Chern SR, Lee CC, Town DD: Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence. Prenat Diagn 18: 1068-1074 (1998).
3. Cuschieri A: EUROCAT Working Group. Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe. Am J Med Genet 103: 207-215 (2001). (Pubitemid 32912218)
4. Cuschieri A: EUROCAT Working Group. Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet 110: 122-130 (2002).
5. De Celis JF, Barrio R: Regulation and function of Spalt proteins during animal development. Int J Dev Biol 53: 1385-1398 (2009).
6. Eggermann T, Nöthen MM, Eiben B, Hofmann D, Hinkel K, et al: Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage nondisjunction. Hum Genet 97: 218-223 (1996). (Pubitemid 26034789)
7. Falcone Jr RA, Levitt MA, Peña A, Bates M: Increased heritability of certain types of anorectal malformations. J Pediatr Surg 42: 124-128 (2007). (Pubitemid 46037723)
8. Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, et al: Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map. Am J Med Genet A 143A:1858-1867 (2007). (Pubitemid 47206060)
9. Heard PL, Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD: High resolution genomic analysis of 18q-using oligo-microarray comparative genomic hybridization (aCGH). Am J Med Genet A 149A:1431-1437 (2009).
10. Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y: Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment. Am J Med Genet A 140A:937-944 (2006).
11. Levitt MA, Peña A: Anorectal malformations. Orphanet J Rare Dis 2: 33 (2007).
12. Lin HY, Lin SP, Chen YJ, Hung HJ, Kao HA, et al: Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A 140A:945-951 (2006).
13. Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, et al: 18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals. Am J Med Genet A 140A:331-339 (2006). (Pubitemid 43227646)
14. Marical H, Le Bris MJ, Douet-Guilbert N, Parent P, Descourt JP, et al: 18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis. Am J Med Genet A 143A:2192-2195 (2007).
15. Mejía-Baltodano G, Bobadílla L, Gonzalez RM, Barros-Núñez P: High recurrence of recombinants in a family with pericentric inversion of chromosome 18. Ann Genet 40: 164-168 (1997). (Pubitemid 27490206)
16. Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, et al: Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet 46: 423-429 (1994).
17. Mundt E, Bates MD: Genetics of Hirschsprung disease and anorectal malformations. Sem Pediatr Surg 19: 107-117 (2010).
18. O'Donnell L, Soileau B, Heard P, Carter E, Sebold C, et al: Genetic determinants of autism in individuals with deletions of 18q. Hum Genet 128: 155-164 (2010).
19. Roberts D, Sweeney E, Walkinshaw S: Congenital cystic adenomatoid malformation of the lung coexisting with recombinant chromosome 18. A case report. Fetal Diagn Ther 16: 65-67 (2001). (Pubitemid 32171074)
20. Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E, et al: De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A 155: 445-449 (2011).
21. Stoll C, Alembik Y, Dott B, Roth MP: Associated malformations in patients with anorectal anomalies. Eur J Med Genet 50: 281-290 (2007). (Pubitemid 47058419)
22. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J: Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 59: 476-483 (1995).
23. Teyssier JR, Bajolle F: Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling. Hum Genet 53: 195-200 (1980). (Pubitemid 10128637)
24. Vermeulen SJ, Speleman F, Vanransbeeck L, Verspeet J, Menten B, et al: Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18)q or dup(18q)/ del(18p) recombinant chromosome. Eur J Hum Genet 13: 52-58 (2005).
25. Vianna-Morgante AM, Nozaki MJ, Ortega C, Coates V, Yamamura Y: Partial monosomy and partial trisomy 18 in two offspring of carrier with a pericentric inversion of chromosome 18. J Med Genet 13: 366-370 (1976).