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Volumn 118 A, Issue 4, 2003, Pages 350-352

Deletion 12q: A second patient with 12q24.31q24.32 Deletion

Author keywords

Chromosome 12q; Deletion; Developmental delay; Fluorescent in situ hybridization; Multiple congenital anomalies; Syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 12Q; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAILURE TO THRIVE; HEART SEPTUM DEFECT; HUMAN; IN SITU HYBRIDIZATION; KARYOTYPE; MALE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0041830478     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10232     Document Type: Article
Times cited : (14)

References (5)
  • 1
    • 0023128108 scopus 로고
    • Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q
    • Meinecke P, Meinecke R. 1987. Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 24:187.
    • (1987) J Med Genet , vol.24 , pp. 187
    • Meinecke, P.1    Meinecke, R.2
  • 2
    • 0034640676 scopus 로고    scopus 로고
    • Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome
    • Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M. 2000. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. Am J Med Genet 93:219-222.
    • (2000) Am J Med Genet , vol.93 , pp. 219-222
    • Rauen, K.A.1    Cotter, P.D.2    Bitts, S.M.3    Cox, V.A.4    Golabi, M.5
  • 4
    • 0015246254 scopus 로고
    • A rapid banding technique for human chromosomes
    • Seabright M. 1971. A rapid banding technique for human chromosomes. Lancet 2:971-972.
    • (1971) Lancet , vol.2 , pp. 971-972
    • Seabright, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.