DiGeorge syndrome and unilateral symbrachydactyly

Genetic Counseling

Volumn 8, Issue 4, 1997, Pages 345-347

  Devriendt, K ^a,b   De Smet, L ^b   De Boeck, K ^b   Fryns, J P ^a  

^a CENTER FOR HUMAN GENETICS   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Del22q11; DiGeorge; Limb malformation

Indexed keywords

ARTICLE; BRACHYDACTYLY; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; HUMAN; MALE;

ARM; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; SUBCLAVIAN ARTERY;

EID: 0031467825     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. BAVINCK J.N.B, and WEAVER D.D.: Subciavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am. J. Med. Genet., 1986, 23, 903-918.
2. BLAUTH W. and GEKELER J.: Zur Morphologie und Klassifikation der Symbrachydaktylie. Handchir., 1971, 3, 123-128.
3. BUTTIENS M. and FRYNS J.P.: Hanhart syndrome in siblings. Abstract 7th Int. Congress Human Genetics. Berlin, 1986, 274.
4. CAREY A.H., KELLY D., HALFORD S., WADEY R., WILSON D., GOODSHIP J., BURN J., PAUL T., SHARKEY A., DUMANSKI J., NORDENSKJOLD M., WILLIAMSON R. and SCAMBLER P.J.: Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J. Hum. Genet., 1992, 51, 964-970.
5. CORMIER-DAIRE V., ISERIN L., THÉOPHILE D., SIDI D., VERVEL C., PADOVANI J.P., VEKEMANS M., MUNNICH A. and LYONNET S.: Upper limb malformations in DiGeorge syndrome. Am. J. Med. Genet., 1995, 56, 39-41.
6. CZEIZEL A., VITEZ M. and LENZ M.: Birth prevalence of Poland sequence and proportion of familial cases. Letter to the editor. Am. J. Med. Genet., 1994, 36, 524.
7. DE SMET L. and FRYNS J.P., Symbrachydactyly in Turner's syndrome. Genet. Counsel., 1995, 6, 247-249.
8. DRISCOLL D.A., SALVIN J., SELLINGER B., BUDARF M.L., MCDONALDMCGINN D.M., ZACKAI E.H. and EMANUEL B.S.: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. Med. Genet., 1993, 30, 813-817.
9. GOLDBERG R., MOTZKIN B., MARION R., SCAMBLER P.J. and SHPRINTZEN R.J.: Velo-cardio-facial syndrome: A review of 120 patients. Am. J. Med. Genet., 1993, 45, 313-319.
10. GREENBERG F.: DiGeorge syndrome: an historical review of clinical and cytogenetic features. J. Med. Genet., 1993, 30, 803-806.
11. LEVY-MOZZICONACCI A., WERNERT F., SCAMBLER P., ROUAULT F., METRAS D., KREITMAN B., DEPETRIS D. and MATTEI MG.: Clinical and molecular study of DiGeorge sequence. Eur. J. Pediatr., 1994, 153, 813-820.
12. RADFORD D.J., PERKINS L., LACHMAN R. and THONG Y.H.: Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome. Pediatr. Cardiol., 1988, 9, 95-101.
13. SHALEV S.A., DAR H., BAREL H., BOROCHOWITZ Z.: Upper limb malformations in chromosome 22q11 deletions. Am. J. Med. Genet., 1996, 62, 302
14. WILSON D.I., BURN J., SCAMBLER P. and GOODSHIP J.: DiGeorge syndrome, part of CATCH 22. J. Med. Genet., 1993, 30, 852-856.