SCOPUS 정보 검색 플랫폼

Volumn 112, Issue 1, 2002, Pages 86-90

Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

(2) Leonard, N J a,b Tomkins, D J a

a UNIVERSITY OF ALBERTA (Canada)

b UNIVERSITY OF ALBERTA HOSPITAL (Canada)

Author keywords

Asymmetry; Chromosome; Hypomelanosis of Ito; Mosaicism; Tetraploidy

Indexed keywords

ADOLESCENT; ANUS ATRESIA; ARTICLE; BLADDER EXSTROPHY; BODY REGIONS; CASE REPORT; CHROMOSOME 1; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DIPLOIDY; DUODENUM; FEMALE; HUMAN; HUMAN CELL; INCONTINENTIA PIGMENT; OMPHALOCELE; PRIORITY JOURNAL; TETRAPLOIDY; BLADDER; CONGENITAL MALFORMATION; GENETICS; HYPOPIGMENTATION; KARYOTYPING; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PLOIDY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANUS, IMPERFORATE; BLADDER; CASE REPORT; DUODENUM; FEMALE; HUMAN; HYPOPIGMENTATION; KARYOTYPING; MOSAICISM; PLOIDIES; HUMANS; URINARY BLADDER;

EID: 4243238201 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10662 Document Type: Article

Times cited : (19)

References (29)

1
- 0015165561
- Tetraploidy and 18-trisomy in a six-year-old triple mosaic boy
- (1971) Cytogenetics , vol.10 , pp. 305-317
- Atnip, R.L.¹ Summitt, R.L.²

2
- 0023896733
- Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: Case report and literature review
- (1988) Clin Genet , vol.33 , pp. 299-307
- Aughton, D.J.¹ Saal, H.M.² Delach, J.A.³ Ur Rahman, Z.⁴ Fisher, D.⁵

3
- 0018068913
- The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects)
- (1978) Birth Defects Orig Artic Ser , vol.14 , pp. 253-263
- Carey, J.C.¹ Greenbaum, B.² Hall, B.D.³

4
- 0022103356
- About diploid-tetraploid mosaicism
- (1985) Clin Genet , vol.28 , pp. 177
- Chamla, Y.¹

5
- 0023816813
- Hypomelanosis of Ito: A manifestation of mosaicism or chimerism
- (1988) J Med Genet , vol.25 , pp. 809-818
- Donnai, D.¹ Read, A.P.² McKeown, C.³ Andrews, T.⁴

6
- 0028109121
- Mixoploidy in humans: Two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy
- (1994) Am J Med Genet , vol.52 , pp. 324-330
- Edwards, M.J.¹ Park, J.P.² Wurster-Hill, D.H.³ Graham J.M., Jr.⁴

7
- 0017112410
- Tetraploidy in a liveborn infant
- (1976) J Med Genet , vol.13 , pp. 329-332
- Golbus, M.S.¹ Bachman, R.² Wiltse, S.³ Hall, B.D.⁴

8
- 0003076242
- Studies on melanosis: XI. Incontinentia pigmenti achromians, a singular case of nevus depigmentosus systematicus bilateralis
- (1952) Tohoku J Exp Med , vol.55 , Issue.SUPPL. , pp. 57-59
- Ito, M.¹

9
- 0017411936
- Origin of triploidy and tetraploidy in man: 11 Cases with chromosomal markers
- (1977) Cytogenet Cell Genet , vol.18 , pp. 109-125
- Kajii, T.¹ Niikawa, N.²

10
- 0016162613
- Mosaic tetraploidy in a two-year-old female
- (1974) Clin Genet , vol.6 , pp. 221-224
- Kelly, T.E.¹ Rary, J.M.²

11
- 0014152276
- Tetraploid-diploid mosaicism in a surviving infant
- (1967) Pediatr Res , vol.1 , pp. 461-469
- Kohn, G.¹ Mayall, B.H.² Miller, M.E.³ Mellman, W.J.⁴

12
- 0023684908
- A liveborn infant with tetraploidy
- (1988) Am J Med Genet , vol.31 , pp. 375-378
- Lafer, C.Z.¹ Neu, R.L.²

13
- 0033532187
- OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins
- (1999) Am J Med Genet , vol.84 , pp. 29-33
- Lee, D.H.¹ Cottrell, J.R.² Sanders, R.C.³ Meyers, C.M.⁴ Wulfsberg, E.A.⁵ Sun, C.-C.J.⁶

14
- 0025204212
- Tetraploidy in a liveborn infant
- (1990) J Med Genet , vol.27 , pp. 782-783
- Lopez Pajares, I.¹ Delicado, A.² Diaz de Bustamante, A.³ Pellicer, A.⁴ Pinel, I.⁵ Pardo, M.⁶ Martin, M.⁷

15
- 0019865732
- Tetraploidy in a liveborn infant with spina bifida and other anomalies
- (1981) J Med Genet , vol.18 , pp. 309-311
- Pitt, D.¹ Leversha, M.² Sinfield, C.³ Campbell, P.⁴ Anderson, R.⁵ Bryan, D.⁶ Rogers, J.⁷

16
- 0021924243
- Diploid-tetraploid mosaicism in a malformed boy
- (1985) Clin Genet , vol.27 , pp. 183-186
- Quiroz, E.¹ Orozco, A.² Salamanca, F.³

17
- 0017591299
- Diploid/tetraploid mosaicism in the offspring of a 46XX/47XXX mosaic mother
- (1977) J Natl Med Assoc , vol.69 , pp. 563-564
- Reddy, C.M.¹ Singh, D.N.² Crump, E.P.³

18
- 0025016841
- Chromosome mosaicism in hypomelanosis of Ito
- (1990) Am J Med Genet , vol.35 , pp. 14-17
- Ritter, C.L.¹ Steele, M.W.² Wenger, S.L.³ Cohen, B.A.⁴

19
- 0029985764
- Unique mosaicism of tetraploidy and trisomy 8: Clinical, cytogenetic, and molecular findings in a liveborn infant
- (1996) Am J Med Genet , vol.62 , pp. 243-246
- Roberts, H.E.¹ Saxe, D.F.² Muralidharan, K.³ Coleman, K.B.⁴ Zacharias, J.F.⁵ Fernhoff, P.M.⁶

20
- 0021925390
- Tetraploidy in two sisters with the polycystic ovary syndrome
- (1985) Clin Genet , vol.27 , pp. 167-174
- Rojanasakul, A.¹ Gustavson, K.H.² Lithell, H.³ Nillius, S.J.⁴

21
- 0021213804
- Tetraploidy: A report of three liveborn infants
- (1984) Am J Med Genet , vol.19 , pp. 29-37
- Scarbrough, P.R.¹ Hersh, J.² Kukolich, M.K.³ Carroll, A.J.⁴ Finley, S.C.⁵ Hochberger, R.⁶ Wilkerson, S.⁷ Yen, F.F.⁸ Althaus, B.W.⁹

22
- 0018692738
- Monozygotic twinning and structural defects
- (1979) J Pediatr , vol.95 , pp. 921-930
- Schinzel, A.A.G.L.¹ Smith, D.W.² Miller, J.R.³

23
- 0023919771
- Tetraploidy in a 15-month-old girl
- (1988) Am J Med Genet , vol.29 , pp. 543-547
- Shiono, H.¹ Azumi, J.² Fujiwara, M.³ Yamazaki, H.⁴ Kikuchi, K.⁵

24
- 0025306666
- Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly
- (1990) Ann Genet , vol.33 , pp. 49-51
- Urioste, M.¹ Pinel, I.² Gomar, J.L.³ Skinner, C.⁴ Martinez-Frias, M.L.⁵

25
- 0020357851
- Mosaic tetraploidy in a male neonate
- (1982) Clin Genet , vol.22 , pp. 295-298
- Veenema, H.¹ Tasseron, E.W.² Geraedts, J.P.³

26
- 0026780197
- Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians)
- (1992) Clin Genet , vol.41 , pp. 309-314
- Vormittag, W.¹ Ensinger, C.² Raff, M.³

27
- 0023705930
- MCA/MR syndrome in a female infant with tetraploidy mosaicism: Review of the human polyploid phenotype
- (1988) Am J Med Genet , vol.30 , pp. 953-961
- Wilson, G.N.¹ Vekemans, M.J.² Kaplan, P.³

28
- 0022310549
- Information about diploid-tetraploid mosaicism in a six-year-old male
- (1985) Clin Genet , vol.28 , pp. 567-568
- Wittwer, B.B.¹ Wittwer, H.B.²

29
- 0026014787
- Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly
- (1991) Clin Genet , vol.40 , pp. 353-357
- Wullich, B.¹ Henn, W.² Groterath, E.³ Ermis, A.⁴ Fuchs, S.⁵ Zankl, M.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.