A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3

American Journal of Medical Genetics

Volumn 132 A, Issue 1, 2005, Pages 101-105

  Quigley, Denise I ^a,d   Sailus, Jeffery ^b   Kaiser Rogers, Kathleen ^b   Rao, Kathleen W ^b   Calikoglu, Muge ^b   Gold, Stuart ^b   McCandless, Shawn E ^c  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^d MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Chimerism; Hepatoblastoma; Mosaicism; Partial monosomy 21q; Trisomy 3

Indexed keywords

DNA MARKER; DNA MINISATELLITE;

ANAMNESIS; ARTICLE; CASE REPORT; CELL LINE; CHIMERA; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GROWTH RETARDATION; HEPATOBLASTOMA; HUMAN; HYPERTENSION; MOLECULAR GENETICS; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; TRISOMY; TRISOMY 21; TRISOMY 3;

CELL LINE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 3; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MICROCEPHALY; MODELS, GENETIC; MOSAICISM; TRISOMY;

EID: 11244296647     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30419     Document Type: Article

References (31)

1. Abe K, Harada N, Itoh T, Hirakawa O, Niikawa N. 1996. Trisomy 13/trisomy 18 mosaicism in an infant. Clin Genet 50(5):300-303.
2. Ahlbom BE, Sidenvall R, Annerén G. 1996. Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation. Am J Med Genet 64:501-505.
3. Angela E, Robinson E, North D. 1976. A case of twin chimerism. J Med Genet 13(6):528-530.
4. Balsara BR, Pei J, De Rienzo A, Simon D, Tosolini A, Lu YY, Shen FM, Fan X, Lin WY, Buetow KH, London WT, Testa JR. 2001. Human hepatocellular carcinoma is characterized by a highly consistent pattern of genomic imbalances, including frequent loss of 16q23.1-24.1. Genes Chr Cancer 30(3):245-253.
5. Bläker H, Hofmann WJ, Rieker RJ, Penzel R, Graf M, Otto HF. 1999. β-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. Genes Chr Cancer 25:399-402.
6. Boklage CE. 1990. Survival probability of human conceptions from fertilization to term. Internat J Fertil 35(2):75, 79-80, 81-94.
7. Celep F, Karagüzel A, Aynaci FM, Erduran E. 1996. A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. Clin Genet 50:248-250.
8. Chettouh Z, Croquette M-F, Delobel B, Gilgenkrants S, Leonard C, Maunoury C, Prieur M, Rethoré M-O, Sinet P-M, Chery M, Delabar J-M. 1995. Molecular mapping of 21 features associated with partial monosomy 21: Involvement of the APP-SOD1 region. Am J Hum Genet 57:62-71.
9. Daniel A, Zhanhe W, Bennetts B, Slater H, Osborn R, Jackson J, Pupko V, Nelson J, Watson G, Cooke-Yarborough C, Loo C. 2001. Karyotype, phenotype and parental origin in 19 cases of triploidy. Prenat Diagn 21:1034-1048.
10. Daniel A, Zhanhe W, Darmanian A, Collins F, Jackson J. 2003. Three different origins for apparent triploid/diploid mosaics. Prenat Diagn 23:529-534.
11. De Keyser F, Matthys E, De Paepe A, Verschraegen-Spae MR, Matton M. 1988. Trisomy 3 mosaicism in a patient with Bartter syndrome. J Med Genet 25:358.
12. Estabrooks LL, Rao RW, Donahue RP, Aylsworth AS. 1990. Holoprosencephaly in an infant with a minute deletion of chromosome 21 (q22.3). Am J Med Genet 36(3):306-309.
13. Giltay JC, Brunt T, Beemer FA, Wit J-M, van Amstel HKP, Pearson PL, Wijmenga C. 1998. Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite. Am J Hum Genet 62:937-940.
14. Harada N, Abe K, Nishimura T, Sasaki K, Ishikawa M, Fujimoto M, Matsumoto T, Niikawa N. 1998. Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus. Am J Med Genet 75:432-437.
15. Hosoi T, Yahara S, Kunitomo K, Saji H, Ohtsuki Y. 1977. Blood chimeric twins: An example of blood cell chimerism. Vox Sang 32(6):339-341.
16. Huret J-L, Leonard C, Chery M, Philippe C, Schafei-Benaissa E, Lefaure G, Babrune B, Gilgenkrantz S. 1995. Monosomy 21q: Two cases of del(21q) and review of the literature. Clin Genet 48:140-147.
17. Krasnikov N, Takaesu N, Hassold T, Knops JF, Finley WH, Scarbrough P. 1992. Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. Am J Med Genet 43:554-560.
18. Kuhn EM, Sarto GE, Bates BJ, Therman E. 1987. Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism. Hum Genet 77(3):214-220.
19. McCorquadale MM, Cummins T, Furlong J. 1985. Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism. Prenat Diag 5:295-298.
20. Metaxotou C, Tsenghi C, Bitzos I, Strataki-Benetou M, Kalpini-Mavrou A, Matsaniotis N. 1981. Trisomy 3 mosaicism in a live-born infant. Clin Genet 19(1):37-40.
21. Muenke M, Bone LJ, Mitchell HF, Hart I, Walton K, Hall-Johnson K, Ippel EF, Dietz-Band J, Kvaloy K, Fan CM, Tessierlavigne M, Patterson D. 1995. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am J Hum Genet 57(5):1074-1079.
22. Musarella MA, Verma RS. 2001. An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: A case report with review. Ann Génét 44:67-70.
23. Nyberg RH, Haapala AK, Simola KO. 1992. A case of human chimerism detected by unbalanced chromosomal translocation. Clin Genet 42(5):257-259.
24. Pearson H. 2002. Dual identities. Nature 417:10-11.
25. Schubert R, Eggermann T, Hofstaetter C, von Netzer B, Knöpfle G, Schwanitz G. 2002. Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature. Am J Med Genet 110:278-282.
26. Strain L, Dean JCS, Hamilton MPR, Bonthron DT. 1998. A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization. New Eng J Med 338(3):166-169.
27. Theodoropoulos DS, Cowan JM, Elias ER, Cole C. 1995. Physical findings in 21q22 deletion suggest critical region for 21q - phenotype in q22. Am J Med Genet 59:161-163.
28. Van Dijk BA, Boomsma DI, de Man AJM. 1996. Blood group chimerism is human multiple births is not rare. Am J Med Genet 61(3):264-268.
29. Von Schweinitz D, Kraus JA, Albrecht S, Koch A, Fuchs J, Pietsch T. 2002. Prognostic impact of molecular genetic alterations in hepatoblastoma. Med Pediatr Oncol 38(2):104-108.
30. Wang SH, Aftimos S. 1999. Abnormal clavicles in a neonate with partial monosomy 21. Pediatr Radiol 29:221-222.
31. Yamamoto Y, Ogasawara N, Gotoh A, Komiya H, Nakai H, Kuroki Y. 1979. A case of 21q - syndrome with normal SOD-1 activity. Hum Genet 48(3):321-327.