Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype

American Journal of Medical Genetics

Volumn 82, Issue 4, 1999, Pages 336-339

  Tsai, Chun Hui ^a   Van Dyke, Daniel L ^a   Feldman, Gerald L ^a  

^a HENRY FORD HOSPITAL   (United States)

Author keywords

4q34.2 deletion; Cleft palate; VCFS like syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION 4; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CLEFT PALATE; FACE; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; LEARNING DISORDERS; MALE; PHENOTYPE; SPEECH DISORDERS; SYNDROME;

EID: 0033590681     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I     Document Type: Article

References (24)

1. Calabrese G, Giannotti A, Mingarelli R, Di Gilio MC, Piemontese MR, Palka G. 1997. Two newborns with chromosome 4 imbalances: deletion 4q33-q35 and ring r(4)(pter-q35.2-qter). Clin Genet 51:264-267.
2. Caliebe A, Waltz S, Jenderny J. 1997. Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of new patient. Clin Genet 52:116-119.
3. Curtis MA, Smith RA, Sibert J, Hughes HE. 1989. Interstitial deletion, del(4)(q33q35.1), in a mother and two children. J Med Genet 26:652-654.
4. Descartes M, Keppler-Noreuil K, Knops J, Longshore JW, Finley WH, Carroll AJ. 1996. Terminal deletion of long arm of chromosome 4 in a mother and two sons. Clin Genet 50:538-540.
5. Devriendt K, De Mars K, De Cook P, Gewillig M, Fryns JP. 1995. Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. Ann Génét 38:228-230.
6. Evers LJ, Schrander-Stumpel CT, Engelen J, Mulder H, Borghgraef M, Fryns JP. 1993. Terminal deletion of the long arm of chromosome 4: Patient report and literature review. Genet Couns 4:139-145.
7. Fagan KA, Morris RB. 1989. Del(4)(q33-qter): Another case report of a child with mild dysmorphism. J Med Genet 26:776-784.
8. Fukushima Y, Ohashi H, Wakui K, Nishida T, Nakamura Y, Hoshino K, Ogawa K, Ohishi T. 1992. DiGeorge syndrome with del(4)(q21.3q25): possibility of the fourth chromosome region responsible for DiGeorge syndrome (abstract). Am J Hum Genet 51:A80.
9. Garza J, Fong CT, Clark E, Buzzard C, Wang N. 1995. A patient with the velocardiofacial syndrome and an unbalanced 1;22 chromosome translocation (abstract). Am J Hum Genet 57:A89.
10. Grammatico P, Spaccini L, Di Rosa C, Cupilari F, Del Porto G. 1997. Del(4)(pter-q33): case report and review of the literature. Genet Couns 8:39-42.
11. Greenberg F, Courtney KB, Wessels RA, Huhta J, Carpenter RJ, Rich DC, Ledbetter DH. 1988. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly. Am J Med Genet 31:1-4.
12. Ho NK, Ng IS. 1993. Deletion of the terminal segment of the long arm of chromosome 4 with aortic stenosis. J Paediatr Child Health 29:473-475.
13. Jefferson RD, Burn J, Gaunt KL, Hunter S, Davison EV. 1986. A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome. J Med Genet 23:474-477.
14. Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, Israel J. 1988. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am J Med Genet 31:533-548.
15. Lynch S, Brown J, Cross I, Milligan D, Goodship J. 1995. Comparison of facial features of DiGeorge syndrome (DGS) due to deletion 10p13-10pter with DGS due to 22q11 deletion (abstract). J Med Genet 32:149.
16. Menko FH, Madan K, Baart JA, Beukenhorst HL. 1992. Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter. Am J Med Genet 44:696-698.
17. Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanuel B, Bartley JA, Hanson JW. 1981. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 8:73-89.
18. Sarda P, Lefort G, Fryns JP, Humeau C, Rieu D. 1992. Interstitial deletion of the distal long arm of chromosome 4. J Med Genet 29:259-261.
19. Stamberg J, Jabs EW, Elias E. 1982. Terminal deletion (4)(q33) in a male infant. Clin Genet 21:125-129.
20. Summar ML, Dasouki MJ, Butler MG, Dev VG. 1995. Recurring de novo unbalanced translocations involving 22q11.2, a hot spot for rearrangement (abstract). Am J Hum Genet 57:A128.
21. Thomas JA, Graham JM Jr. 1997. Chromosome 22q11 deletion syndrome. An update and review for the primary pediatrician. Clin Pediatr 36: 253-66.
22. Tomkins DJ, Hunter AGW, Uchida IA, Roberts MH. 1982. Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin Genet 22:348-355.
23. Towens PL, White M, Di Marzo, SV. 1979. 4q- syndrome. Am J Dis Child 133:383-385.
24. Tuchmann M, Ebrahimi J, Gorlin RJ. 1983. Deletion of chromosome 4q33-qter. Is it different from 4q31-qter deletion syndrome? Am J Med Genet 14:391-393.