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Volumn 13, Issue 5, 2002, Pages 623-626

CATCH 22 syndrome

Author keywords

CATCH 22 syndrome; Conotruncal anomaly face syndrome; DiGeorge syndrome; Velocardiofacial syndrome

Indexed keywords

ARTICLE; CASE REPORT; CATCH 22 SYNDROME; CHROMOSOME DELETION; CHROMOSOME DELETION 22; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONOTRUNCAL ANOMALY FACE SYNDROME; DIGEORGE SYNDROME; FACE MALFORMATION; FEMALE; HUMAN; HYPOCALCEMIA; INFANT; MALFORMATION SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; THYMUS DISEASE; THYMUS HYPOPLASIA; VELOCARDIOFACIAL SYNDROME; CHROMOSOME 22; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FACIES; GENETICS; MULTIPLE MALFORMATION SYNDROME; NEWBORN; SYNDROME; THYMUS;

EID: 0036718257     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001665-200209000-00005     Document Type: Article
Times cited : (8)

References (15)
  • 1
    • 0000399572 scopus 로고
    • Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism
    • National Foundation B.D
    • DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. National Foundation B.D., OAS 1968;4:116-123
    • (1968) OAS , vol.4 , pp. 116-123
    • DiGeorge, A.M.1
  • 2
    • 0002055560 scopus 로고
    • Etiological categorization of common congenital heart disease
    • Van Praagh R, Takao A, (eds.) New York: Futura
    • Takao A, Ando M, Cho K, et al. Etiological categorization of common congenital heart disease. In: Van Praagh R, Takao A, (eds.) Etiology and Morphogenesis of Congenital Heart Disease. New York: Futura, 1980:253-269
    • (1980) Etiology and Morphogenesis of Congenital Heart Disease , pp. 253-269
    • Takao, A.1    Ando, M.2    Cho, K.3
  • 3
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical faces and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical faces and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56-62
    • (1978) Cleft Palate J. , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3
  • 4
    • 0019352243 scopus 로고
    • The velo-cardio-facial syndrome: A clinical and genetic analysis
    • Shprintzen RJ, Goldberg RB, Young D, et al. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981;67:167-172
    • (1981) Pediatrics , vol.67 , pp. 167-172
    • Shprintzen, R.J.1    Goldberg, R.B.2    Young, D.3
  • 6
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • De la Chapelle A, Herva R, Koivisto M, et al. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981;57:253-256
    • (1981) Hum. Genet. , vol.57 , pp. 253-256
    • De la Chapelle, A.1    Herva, R.2    Koivisto, M.3
  • 7
    • 0026725876 scopus 로고
    • Deletions within chromosome 22q11 in familial congenital heart disease
    • Wilson DI, Goodship JA, Burn J, et al. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 1992;340:573-575
    • (1992) Lancet , vol.340 , pp. 573-575
    • Wilson, D.I.1    Goodship, J.A.2    Burn, J.3
  • 8
    • 0002728532 scopus 로고
    • The expanded velo-cardio-facial syndrome: Additional features of the most common clefting syndrome
    • Shprintzen RJ, Wang F, Goldberg RB, et al. The expanded velo-cardio-facial syndrome: additional features of the most common clefting syndrome. Am J Hum Genet 1985;37:A77
    • (1985) Am. J. Hum. Genet. , vol.37
    • Shprintzen, R.J.1    Wang, F.2    Goldberg, R.B.3
  • 9
    • 0021807275 scopus 로고
    • Male-to-male transmission of the velo-cardio-facial syndrome: A case report and review of 60 cases
    • Williams MA, Shprintzen RJ, Goldberg RB. Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases. J Craniofac Genet Dev Biol 1985;5:175-180
    • (1985) J. Craniofac. Genet. Dev. Biol. , vol.5 , pp. 175-180
    • Williams, M.A.1    Shprintzen, R.J.2    Goldberg, R.B.3
  • 10
    • 0027459424 scopus 로고
    • Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
    • Kelly D, Goldberg R, Wilson D, et al. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet 1993;45:308-312
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 308-312
    • Kelly, D.1    Goldberg, R.2    Wilson, D.3
  • 11
    • 0003047494 scopus 로고    scopus 로고
    • Facial appearance of patients with conotruncal anomalies
    • Kinouchi A, Mori K, Ando M, et al. Facial appearance of patients with conotruncal anomalies. Pediatr Jpn 17:84
    • Pediatr. Jpn. , vol.17 , pp. 84
    • Kinouchi, A.1    Mori, K.2    Ando, M.3
  • 12
    • 0028019184 scopus 로고
    • Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
    • Matsuoka R, Takao A, Kimura M, et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 1994;53:285-289
    • (1994) Am. J. Med. Genet. , vol.53 , pp. 285-289
    • Matsuoka, R.1    Takao, A.2    Kimura, M.3
  • 13
    • 0027373693 scopus 로고
    • Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
    • Burn J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 1993;30:822-824
    • (1993) J. Med. Genet. , vol.30 , pp. 822-824
    • Burn, J.1    Takao, A.2    Wilson, D.3
  • 14
    • 0027419805 scopus 로고
    • Cellular and molecular contributions of the cardiac neural crest to cardiovascular development
    • Kirby ML. Cellular and molecular contributions of the cardiac neural crest to cardiovascular development. Trends Cardiovasc Med 1993;3:18-23
    • (1993) Trends Cardiovasc. Med. , vol.3 , pp. 18-23
    • Kirby, M.L.1
  • 15
    • 0023628448 scopus 로고
    • Abnormal carotid arteries in the velocardiofacial syndrome: A report of three cases
    • MacKenzie-Stepner K, Witzel MA, Stringer DA, et al. Abnormal carotid arteries in the velocardiofacial syndrome: a report of three cases. Plast Reconstr Surg 1987;80:347-351
    • (1987) Plast. Reconstr. Surg. , vol.80 , pp. 347-351
    • MacKenzie-Stepner, K.1    Witzel, M.A.2    Stringer, D.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.