Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum

American Journal of Medical Genetics

Volumn 84, Issue 5, 1999, Pages 460-468

  Reddy, Kavita S ^a   Flannery, David ^b   Farrer, R James ^c  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c Psychiat Grp Coast Empire Inc   (United States)

Author keywords

Abnormal situs viscerum; Deletion 2q37.3; FISH confirmation

Indexed keywords

ABDOMINAL WALL HERNIA; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q; CYTOGENETICS; DEXTROCARDIA; DUODENUM ATRESIA; FEMALE; GENE DELETION; GENE LOCUS; HUMAN; INTESTINE MALFORMATION; MALE; MALROTATION SYNDROME; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; SITUS INVERSUS;

ANEMA;

EID: 0032964922     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990611)84:5<460::AID-AJMG10>3.0.CO;2-L     Document Type: Article

References (31)

1. Coldwell JG, Gucsavas M, Say B, Carpenter NJ. 1992. An infant with karyotype 46,XX,del(2Xq37) and severe congenital abnormalities. Am J Hum Genet 51:A301.
2. Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont ME. 1995. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet 48:134-139.
3. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. 1997. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet 61:395-401.
4. Finger LR, Pu J, Wasserman R, Vibhakar R, Louie E, Hardy RR, Burrows PD, Billips LG. 1997. The human PD-1 gene: complete cDNA, genomic organization, and developmentally regulated expression in B-cell progenitors. Gene 197:177-187.
5. Fisher AM, Ellis KH, Browne CE, Barber JCK, Barker M, Kennedy CR, Foley H, Patton MA. 1994. Small terminal deletions of the long arm of chromosome 2: Two new cases. Am J Med Genet 53:366-369.
6. Fitch N. 1982. Albright's hereditary osteodystrophy: a review. Am Med Genet 11:11-29.
7. Freeman SB, Muralidharan K, Pettay D, Blackston RD, May KM. 1996. Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20, 46,XX,t(11;20)(q13.1;q13.13). Am J Med Genet 61:340-344.
8. Friedman BD, Gorski JL, Hall BD, Brothman A, Carey JC, Flejter WL. 1997. Deletion of chromosomal region 2q37: Clinical phenotype in eight cases. Am J Hum Genet 61:A98.
9. 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(suppl):A1543.
10. Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW. 1989. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet 32: 350-352.
11. Haag M, Gilfillan T, Berry R, Hull C, Stewart J, Manchester DK, McGavaran L. 1993. Microdeletion of chromosome 2qter in two unrelated children with characteristic facies and mental retardation. Am J Hum Genet 53:A1571.
12. Kato R, Matsumoto N, Fujimoto M, Nakano M, Nakamura Y, Niikawa N. 1997. Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia. Jpn J Hum Genet 42:525-532.
13. 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.
14. Lamb AN, Roche M, Kirkman HN, Rao KW, Aylsworth AS. 1990. A patient with a minute terminal deletion of chromosome 2 long arm. Am J Hum Genet 47:A32.
15. Lin SP, Petty EM, Gibson LH, Inserra J, Seashore MR, Yang-Feng TL. 1992. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. Am J Med Genet 44:500-502.
16. Kane HA, Borgaonkar DS, McDermott M, Septimus S. 1991. 18p monosomy syndrome. Ped Cardiol 12:133.
17. Mascarello JT, Hubbard V. 1991. Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. Am J Med Genet 38:37-42.
18. O'Dowd BF, Nguyen T, Marchese A, Cheng R, Lynch KR, Heng HHQ, Kolakowski LF, George SR. 1998. Discovery of three novel G-protein-coupled receptor genes. Genomics 47:310-313.
19. Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1998. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 62:1551-1555.
20. Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB. 1995. Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 58:1-7.
21. Power MM, James RS, Barber JCK, Fisher AM, Wood PJ, Leatherdale BA, Flanagan DEH, Hatchwell E. 1997. RDC1, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J Med Genet 54:287-290.
22. Poznanski AK, Werder EA, Giedion A, Martin A, Shaw H. 1977. The pattern of shortening of the bones of the hand in PHP and PPHP: a comparison with brachydactyly E, Turner syndrome, and acrodysostosis. Radiology 123:707-718.
23. Shinohara T, Taniwaki M, Ishida Y, Kawaichi M, Honjo T. 1994. Structure and chromosomal localization of the human PD-1 gene (PDCD1). Genomics 23:704-706.
24. Stein CK, Del Signore C, Bellinger M, Bryke CR. 1992. Deletion of 2q37 - a new syndrome? Am J Hum Genet 51:A310.
25. Stratton RF, Tolworthy JA, Young RS. 1994. Deletion (2)(q37). Am J Med Genet 51:153-155.
26. Voit-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker JN, Henry I, Munnich A, Vekemans M, Lyonnet S. 1998. Wilms tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clin Genet 53:278-280.
27. Wang T-H, Johnston K, Hsieh C-L, Dennery PA. 1994. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet 49:399-401.
28. Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
29. Waters BL, Allen EF, Gibson PC, Johnston T. 1993. Autopsy findings in a severely affected infant with a 2q terminal deletion. Am J Med Genet 47:1099-1103.
30. 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.
31. Wilson LC, Leverton K, Oude Luttikhuis MEM, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, Trembath RC. 1995. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 56:400-407.