메뉴 건너뛰기




Volumn 15, Issue 2, 2004, Pages 167-173

Sensorineural deafness in two infants: A novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes

Author keywords

Duplication of chromosome 22; Phenotype; Sensorineural deafness

Indexed keywords

22Q DISTAL DUPLICATION SYNDROME; ARTICLE; CASE REPORT; CAT EYE SYNDROME; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLEFT PALATE; CLINICAL FEATURE; CRYPTORCHISM; EPICANTHUS; FAILURE TO THRIVE; FEMALE; GROWTH RETARDATION; HUMAN; HYDROCEPHALUS; LOW SET EAR; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; PERCEPTION DEAFNESS; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; PHILTRUM; SCHOOL CHILD; SYNDROME DELINEATION; THUMB MALFORMATION; TRISOMY; TRISOMY 22;

EID: 3142512633     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (18)

References (19)
  • 2
    • 0019948829 scopus 로고
    • Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation
    • BENDEL R.P., BALDINGER S., MILLARD C., ARTHUR D.C.: Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. J. Med. Genet., 1982, 19, 313.
    • (1982) J. Med. Genet. , vol.19 , pp. 313
    • Bendel, R.P.1    Baldinger, S.2    Millard, C.3    Arthur, D.C.4
  • 5
    • 0018932911 scopus 로고
    • The 11q:22q translocation: A European collaborative analysis of 43 cases
    • FRACCARO M., LINDSTEN J., FORD C.E., ISELIUS L.: The 11q:22q translocation: a European collaborative analysis of 43 cases. Hum. Genet., 1980, 56, 21-51.
    • (1980) Hum. Genet. , vol.56 , pp. 21-51
    • Fraccaro, M.1    Lindsten, J.2    Ford, C.E.3    Iselius, L.4
  • 6
    • 0020594336 scopus 로고
    • Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2)
    • FUJIMOTO A., WILSON M.G., TOWNER J.W.: Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2). Hum. Genet., 1983, 63, 82-84.
    • (1983) Hum. Genet. , vol.63 , pp. 82-84
    • Fujimoto, A.1    Wilson, M.G.2    Towner, J.W.3
  • 9
    • 0017355469 scopus 로고
    • Familial translocation with partial trisomy of 13 and 22: Evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy
    • KIM H.J., HSU L.Y., GOLDSMITH L.C., STRAUSS L., HIRSCHHORN K.: Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. J. Med. Genet., 1977, 14, 114-119.
    • (1977) J. Med. Genet. , vol.14 , pp. 114-119
    • Kim, H.J.1    Hsu, L.Y.2    Goldsmith, L.C.3    Strauss, L.4    Hirschhorn, K.5
  • 10
    • 0028912759 scopus 로고
    • Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome
    • KNOLL J.H., ASAMOAH A., PLETCHER B.A., WAGSTAFF J.: Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Am. J. Med. Genet., 1995, 55, 221-224.
    • (1995) Am. J. Med. Genet. , vol.55 , pp. 221-224
    • Knoll, J.H.1    Asamoah, A.2    Pletcher, B.A.3    Wagstaff, J.4
  • 12
    • 0016742257 scopus 로고
    • Trisomy 22. Two new cases and delineation of the phenotype
    • PENCHASZADEH V.B., COCO R.: Trisomy 22. Two new cases and delineation of the phenotype. J. Med. Genet., 1975, 12, 193-199.
    • (1975) J. Med. Genet. , vol.12 , pp. 193-199
    • Penchaszadeh, V.B.1    Coco, R.2
  • 15
    • 0024788694 scopus 로고
    • 22q distal duplication syndrome
    • RIVERA H.: 22q distal duplication syndrome. Am. J. Med. Genet., 1989, 34, 616.
    • (1989) Am. J. Med. Genet. , vol.34 , pp. 616
    • Rivera, H.1
  • 16
    • 0019484902 scopus 로고
    • Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6:22)(q27:q13)
    • SCHINZEL A.: Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6:22)(q27:q13). Hum. Genet., 1981, 56, 263-268.
    • (1981) Hum. Genet. , vol.56 , pp. 263-268
    • Schinzel, A.1
  • 17
    • 0025818595 scopus 로고
    • Partial trisomy 22q12-qter in prenatal diagnosis
    • TOLKENDORF E., MEHNER G., PRAGER B.: Partial trisomy 22q12-qter in prenatal diagnosis. Prenat. Diagn., 1991, 11, 339-342.
    • (1991) Prenat. Diagn. , vol.11 , pp. 339-342
    • Tolkendorf, E.1    Mehner, G.2    Prager, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.