Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]

American Journal of Medical Genetics

Volumn 61, Issue 4, 1996, Pages 340-344

  Freeman, Sallie B ^a,b   Muralidharan, Kasinathan ^a   Pettay, Dorothy ^b   Blackston, R Dwain ^a   May, Kristin M ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY   (United States)

Author keywords

asplenia; chromosome 11; chromosome 20; heterotaxy; Hirschsprung disease; pulmonary stenosis; situs inversus; translocation

Indexed keywords

ALLELE; ARTICLE; ASPLENIA; CASE REPORT; CHROMOSOME 11; CHROMOSOME 20; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; FEMALE; GENE DISRUPTION; HIRSCHSPRUNG DISEASE; HUMAN; PATIENT CARE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SEGREGATION ANALYSIS; SITUS INVERSUS;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; HUMANS; MALE; PEDIGREE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0030038480     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960202)61:4<340::AID-AJMG7>3.0.CO;2-Y     Document Type: Article

References (30)

1. Afzelius BA (1976): A human syndrome caused by immotile cilia. Science 193:317-319.
2. Bartolomei MS, Tilghman SM (1992): Parental imprinting of mouse chromosome 7. Dev Biol 3:107-117.
3. Burn J (1991): Disturbance of morphological laterality in humans. Ciba Found Symp 162:282-296.
4. Brueckner M, D'Eustachio P, Horwich AL (1989): Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. Proc Natl Acad Sci 86:5035-5038.
5. Carmi R, Boughman JA, Rosenbaum KR (1992): Human situs determination is probably controlled by several different genes. Am J Med Genet 44:246-247.
6. Casey B, Devoto M, Jones KL, Ballabio A (1993): Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 5:403-407.
7. Freedom RM (1972): The asplenia syndrome: A review of significant extracardiac structural abnormalities in 29 necropsied patients. J Pediatr 81:1130-1133.
8. Fukushima Y, Ohashi H, Wakui K, Fujiwara M, Nakamura Y, Ogawa K (1993): Polysplenia syndrome and paracentric inversion of chromosome 11 [46,XX,inv(11)(q13q25)]. Am J Hum Genet 53:1543A.
9. Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G (1993): Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet 47:823-831.
10. Hanzlik AJ, Binder M, Layton WM, Rowe L, Layton M, Taylor BA, Osemlak MM, Richards JE, Kurnit DM, Stewart GD (1990): The murine situs inversus viscerum (iv) gene responsible for visceral asymmetry is linked tightly to the Igh-C cluster on chromosome 12. Genomics 7:389-393.
11. Hummel KP, Chapman DB (1959): Visceral inversion and associated anomalies in the mouse. J Hered 50:9-13.
12. Ivemark BI (1955): Implications of agenesis of the spleen on the pathogenesis of cono-truncus anomalies in childhood: Analysis of the heart malformations in splenic agenesis syndrome, with fourteen new cases. Acta Paediatr 44(suppl.104):1-110.
13. Kartagener M, Stucki P (1962): Bronchiectasis with situs inversus. Arch Dis Child 79:193-207.
14. Koiffmann CP, Wajntal A, de Souza DH, Gonzalez CH, Coates MV (1993): Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24). Am J Med Genet 47:568-569.
15. Layton WM, Layton MW, Binder M, Kurnit DM, Hanzlik AJ, Van Keuren M, Biddle FG (1993): Expression of the IV (reversed and/or heterotaxic) phenotype in SWV mice. Teratology 47:595-602.
16. Mikkila SP, Janas M, Karikoski R, Tarkkila T, Simola KOJ (1994): X-linked laterality sequence in a family with carrier manifestations. Am J Med Genet 49:435-438.
17. Mishalny H, Mahnovski V, Woolley M (1982): Congenital asplenia and anomalies of the gastrointestinal tract. Surgery 91:38-41.
18. Neihrs C, De Robertis EM (1992): Vertebrate axis formation. Curr Opin Genet Dev 2:550-555.
19. Opitz JM (1985): Editorial comment on the paper by de la Monte and Hutchins on familial polyasplenia. Am J Med Genet 21:175-176.
20. Parr BA, McMahon AP (1994): Wnt genes and vertebrate development. Curr Op Genet Dev 4:523-528.
21. Peoples WM, Moller JH, Edwards JE (1983): Polysplenia: A review of 146 cases. Pediatr Cardiol 4:129-137.
22. Rose V, Izukawa T, Moes CAF (1975): Syndromes of asplenia and polysplenia. Brit Heart J 37:840-852.
23. Searle AG, Beechey CV (1985): Noncomplementation phenomena and their bearing on nondisjunction events. In Dellarco VL, Voytek PE, Hollaender A (eds): "Aneuploidy." New York: Plenum Press, pp 363-376.
24. Seo JW, Brown NA, Ho SY, Anderson RH (1992): Abnormal laterally and congenital cardiac anomalies. Circulation 86:642-650.
25. Tannahill D, Isaacs HV, Close MJ, Peters G, Slack JMW (1992): Developmental expression of the Xenopus int-2 (FGF-3) gene: Activation by mesodermal and neural induction. Development 115:695-702.
26. Van Mierop LHS, Gessner IH, Schiebler GL (1972): Asplenia and polysplenia syndromes. Birth Defects 8:74-82.
27. Wilson GN (1992): Reply to Dr. Carmi et al. Am J Med Genet 44: 248-249.
28. Wilson GN, Stout JP, Schneider NR, Zneimer SM, Gilstrap LC (1991): Balanced translocation 12/13 and situs abnormalities: Homology of early pattern formation in man and lower organisms? Am J Med Genet 38:601-607.
29. Yokoyama T, Copeland NG, Jenkins NA, Montgomery CA, Elder FFB, Overbeek PA (1993): Reversal of left-right asymmetry: A situs inversus mutation. Science 260:679-682.
30. Zlotogora J, Elian E (1981): Asplenia and polysplenia syndromes with abnormalities of lateralization in a sibship. J Med Genet 18: 301-302.