Deletion (4)(q33→qter): A case report and review of the literature

Journal of Child Neurology

Volumn 12, Issue 5, 1997, Pages 335-337

  Borochowitz, Zvi ^a   Shalev, Stavit A ^a   Yehudai, Irit ^a   Bar El, Hanna ^a   Dar, Hanna ^a   Tirosh, Emanuel ^b  

^a Simon Winter Inst for Hum Genetics   (Israel)

^b BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 4; CLINICAL FEATURE; CYTOGENETICS; HUMAN; MALE; PRIORITY JOURNAL; SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 0030986496     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389701200510     Document Type: Article

References (32)

1. Schinzel A: Catalog of unbalanced chromosome aberrations in man. Ann Genet 1984;22:214-216.
2. Golbus MS, Conte FA, Daentl DL: Deletion from the long arm of chromosome 4(46,XX,4q-) association with congenital anomalies. J Med Genet 1973;10:83-85.
3. Ferrier S, Freund M: A propos d'un cas de deletion du bras long du chromosome B4 (B4q-). Arch Genet (Zur) 1974;47:16-26.
4. Van Kempen MC: A patient with congenital anomalies and a deletion of the long arm of chromosome 4 (46,XY,del(4)(q31)). J Med Genet 1975;12:204-206.
5. Back E, Hetel C, Vogel W, et al: Deletion of long arm of chromosome 4, 46,XX,del(4)(q31) in a patient with congenital anomalies. Ann Genet 1977;20:294-296.
6. Mikkelsen M, Jacobsen P, Henningsen K: Possible localization of Gc-system on chromosome 4: Loss of long arm 4 material associated with father-child incompatibility within the Gc-system. Hum Hered 1977;27:105-107.
7. Frias JL, Nelson RM, Shari LR, Ray CT: Deletion of the long arm of chromosome 4: A clinically identifiable syndrome? Birth Defects 1978;14(6):355-358.
8. Townes PL, White M, Di Mazo SV: 4q-syndrome. Am J Dis Child 1979;133:383-385.
9. Davis JM, Clarren SK, Salk DJ: Brief clinical report: The del(4)(131) syndrome - a recognizable disorder with a typical Robin malformation sequence. Am J Med Genet 1979;9:113-117.
10. Mitchell JA, Packman S, Loughman WD, et al: Of different segments of the long arm of chromosome 4. Am J Med Genet 1981;8:73-89.
11. Yu CW, Chen H, Baucum R, Hand AM: Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY,del(4)(q31) and review of 4q-syndrome. Ann Genet 1981;24:158-161.
12. Chudely AE, Pabello PD, Bingham W, Goluboff N: Del (4)(q31) syndrome. Am J Med Genet 1982;13:341-343.
13. Lipson A, Collis C, Green C: Partial deletion of the long arm of chromosome 4: A clinical syndrome. J Med Genet 1982;19:155-157.
14. Sanding KR, Mucke J, Trautmann V: The partial 4q monosomy. Eur J Pediatr 1982;138:254-257.
15. Young RS, Palmer CG, Bender A, et al: Partial deletion of chromosome 4q. Am J Med Genet 1982;12:103-108.
16. Berger A, Dar H, Reiter A, Tal Y: Chromosome 4q deletion syndrome; a case report. Israel J Med Sci 1983;19:850-852.
17. Ockey CH, Feldman GV, Macaulay ME, Delaney MJ: A large deletion of the long arm of chromosome number 4 in a child with limb abnormalities. Arch Dis Child 1967;42:428-434.
18. Rethore MO, Couturier J, Mselati J, et al: Monosomie 4q32-1-qter survenue de novo chez un nouveau-ne multiforme. Ann Genet 1979;22:214-216.
19. Fryns JP, Timmermans J, Hoedemaekers J, et al: Pierre-Robin anomalad moderate mental retardation and distal 4q deletion. Ann Genet 1981;24:187-188.
20. Tomkins DJ, Hunter AGW, Uchida IA, Roberts MH: Two children with deletion of the long arm of chromosome 4 with breakpoint at band q.33′. Clin Genet 1982;22:348-355.
21. Stamberg J, Jabs EW, Ellas E: Terminal deletion (4)(q33) in a male infant. Clin Genet 1982;21:125-129.
22. Jefferson RD, Burn J, Gaunt KL, et al: A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic feature of Williams syndrome. J Med Genet 1986;23:474-480.
23. Fagan KA, Morris RB: Del 4q33→qter: Another case report of a child with mild dysmorphism. J Med Genet 1989;26:776-784.
24. Menko FH, Madan IL, Baart JA, Beuhehorst HL: Robin sequence and a deficiency of the left long arm in a girl with a deletion of chromosomes 4q33-qter. Am J Med Genet 1992;44:696-698.
25. Tuchman M, Ebrehimi J, Gorlin RJ: Deletion of chromosome 4q33→qter. Is it different from 4q31→qter deletion syndrome? Am J Med Genet 1983;14:391-393.
26. Tupler R, Maraschio P, Gerardo A, et al: A complex chromosome rearrangement with10 break points: Tentative assignment of the locus for Williams syndrome to 4q33→q35.1. J Med Genet 1992;29: 253-255.
27. Gesell A, Amartruda C: Developmental diagnosis, normal and abnormal, in Gesell A (ed): Child Development. 2nd ed, New York, P.B. Hoeber Inc, 1954.
28. Bayley N: Bayley Scales of Infant Development. New York, Psychological Corporation, 1969.
29. Griffiths R: Griffiths Mental Development Scales for Babies and Young Children From Birth to Eight Years of Age. London, Child Development Mental Retardation Center, 1967.
30. Yunis JJ, Chandler ME: High resolution chromosome analysis in clinical medicine. Prog Clin Pathol 1978;7:882-886.
31. Rooney DE, Czepulkowski BH (eds): Human Cytogenetics-A Practical Approach. London, Oxford Press, 1987, pp 50-51.
32. Yunis JJ: New Chromosomal Syndromes. New York, Academic Press, 1977, pp 132-135, 369-394.