Chromosome 22q11 microdeletion: A series of 49 children;La microdeletion du chromosome 22q11 chez l'enfant: A propos d'une serie de 49 patients

Archives de Pediatrie

Volumn 3, Issue 8, 1996, Pages 761-768

  Levy Mozziconacci, A ^a   Lacombe, D ^b   Leheup, B ^a   Wernert, F ^c   Rouault, F ^d   Philip, N ^a  

^a TIMONE HOSPITAL   (France)

^b HÔPITAL PELLEGRIN   (France)

^c Espace Viton   (France)

^d CHU NANCY BRABOIS   (France)

Author keywords

abnormalities; child; chromosome deletion; chromosomes, human; genetic counselling; pair 22

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; DIGEORGE SYNDROME; FACE DYSMORPHIA; GENETIC COUNSELING; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; IN SITU HYBRIDIZATION; INFANT; NEWBORN; PHENOTYPE; SYMPTOMATOLOGY; VELOCARDIOFACIAL SYNDROME; CHROMOSOME 22; CHROMOSOME MAP; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; FACE; GENETICS; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; THYMUS;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FACE; HEART DEFECTS, CONGENITAL; HUMANS; HYPOCALCEMIA; INFANT; INFANT, NEWBORN; PSYCHOMOTOR DISORDERS; THYMUS GLAND;

EID: 0030203060     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0929-693X(96)82157-9     Document Type: Article

References (32)

1. Di George AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypothyroidism. White Plains, New York: March of Dimes-Birth Defects Foundation. Birth Defects IV 1968;1:116-28
2. Lammer EJ, Opitz JM. The Di George anomaly as a developmental field defect. Am J Med Genet 1986;2(Suppl):113-27
3. De La Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause Di George syndrome. Hum Genet 1981;57:253-6
4. Cannizzaro LA, Emanuel BS. In situ hybridization and translocation breakpoint mapping. Ed. Di George syndrome with partial monosomy of chromosome 22. Cytogenet Cell Genet 1985;39:179-83
5. Dallapiccola B, Marino B, Giannotti A, Valorani G. Di George anomaly associated with partial deletion of chromosome 22: report of a case with X/22 translocation and review of the literature. Ann Genet 1989;32:92-6
6. Kelley RI. Zackai EH. Emanuel BS, Kistenmacher M. Greenberg F. Punnett HH. The association of the Di George anomalad with partial monosomy of chromosome 22. J Pediatr 1982;101:197-200
7. Carey AH. Roach S, Williamson R, Dumanski JP et a1. Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the Di George syndrome and duplicated in the der22 syndrome. Genomics 1990;7:299-306
8. Carey AH. Kelly D, Halford S et al. Molecular genetic study of the frequency of monosomy 22q11 in Di George syndrome. Am J Hum Genet 1992;51:964-70
9. Desmaze C. Scwnbler P, Prieur M et al. Routine diagnosis of Di George syndrome by fluorescent in situ hybridization. Hum Genet 1993:90:663.
10. Driscpll DA, Budaif ML, Enmnuel BS. A genetic etiology for Di George syndrome: consistent deletions tnd microdeledons of 22ql 1. Am J Hum Genet 1992;0:924-33
11. Driscoll DA. Sil'.in J, Sellinger B et al. Prevalence of 22q11 microdeletioiu in Di George and vclacardiofacial syndromes: imp. cations for genetic counselling and prenatal diagnosis. J Med Genet 1993:30:813-7
12. Fibivm WJ, DucUrf M, Me Dermkl H, Creenb CTg H. Enrucl BS. Molecular studies of Di George syndrome. Am J Hum Genet 1990;46:888-95
13. ScantMer PJ. Carey AH, Wyse RKH et al. Microdeletions within 22q11 associated with sportdic and familial Di George syndrome. Genomics 1991; 10:201-6
14. SbprinUm RJ. Ooldbcted RB, Lewin ML et at. A new syndrome involvldg cleft palate, cardiac anomalies, typical fades and learniof disabilities: velo-cardio-facial syndronte. Clrfi Poiate J 1978;15:56-62
15. Shprinizen RJ, Goldberg R, Oolding-Kuchner KJ, Mkrion RW, Late-oroet psychosis in ths velo-cardio-facial syndrome (Letter). AmJMed Genet 1992;42:141-2
16. Stevens CA. Carey JC. Shljeoka AO. Di George anomaly and velocanliofacial syodcotne, Pediatrics 1990;85:526-30
17. Driscoll DA, Spinner NB.Budaif ML ctal.Deletiofis and microdelea'ons of 22qll.2 in velo-card-facial syndrome. Am J Med Genet 1992.44:261-8
18. Lipson A, Emanuel B, Colley P, Pagan K, Driscoll DA. CATCH 22 without cardiac anomaly, thymic nypoplisia, cleft palate and hypocalcetnla. A common result of 22q11 deficiency? (Letter). J Med Genet 1994;31:741
19. Scirc C, DmllapiccDU B, lanncUi P et al. Hypopanthyroidism as the major manifestation in two patients with 22q11 deletions. AmJMed Genet 1994;52:478-82
20. Cornier-Dairc V, Iserin L. Theophile D el al. Upper limb mil formations in Di George syndrome. Am J Med Genet 1995:56:39-41
21. Lynch DR, McDonnld-McGinn DM, Zackai EH et ai. Cerebell IT atrophy in a patient with velocardiofacial syndrome. J Med Gentt 1995;32:561-3
22. Giannotti A, Digilio MC, Marino B, Mingarclli R, DullapiccoU B. Cayler cardiofacial syndrome ind del 22q11 ; part of the CATCH22 phenotype (Letter). Am J Med Genet 1994:53:303-4
23. Bum J, Takao A, Wilson D et ml, Conotruncal face anonuly face syndrome associated with a deletion within chromosome 22q11. J Med Genet 1993:30:822-4
24. Wilson D, Bum I, Scimbler P, Goodship J. Di George syndrome: pin of CATCH22. / Med Genet 1993;30:852-6
25. Levy-Mozziconacci A, Wemert F, Seambler P et il. Clinical and molecular study of Di George sequence. Eur J Pediatr 1994; 153:813-20
26. Cheiif D, Julier C. Delattre O, Dene J, Lathrop CM, Berger R. Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy; application to regional mapping of human chromosome 11. Proc Natl AcadSci USA 1990:87:6639-43
27. Pinkel D, Landegent J, Collios C et il. Fluocetceoce: A situ hybridization with human chromosome-ipecific libnriei: 4. Pnxffaa Acad Sci USA 1988;85:9138-2
28. Lemieux N. Dutrillanx B, VIegai-Pequignot E. A simple method for simuhaneoi R or O banding and fluorescence in situ hybridization of mall single copy genes. Cytogenet Cell Genet 1992;9:311-2
29. UiKltay EA. HaUordWadeyR.ScainblerPJ.BeldiniA. Molecular cytogenetic chiracterizalion of toe Di George syndrome region using fluorescence in situ hybridization. GtHomics 1993;17:403-7
30. WibofiDl.CrouIE et al. Minimum prevalence of chromosome 22ql I deletion. Am J Hum Gtnet 1994-5A169
31. Sidi D, Munnich A. Cardiopcdiatrie et genetique: une collaboration qui commence porter sei frnlti. Arch Pfdiatr 1994;M58-fi2
32. Demczuc S, Levy A, Aubry M et al. Excess of deletions of maternal origin in the Di George/Velo-cardlo-facitl syndromes. A study of 22 new patients and review of the literature. Hum Genet 1995;96:9-13