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Clinical Dysmorphology
Volumn 13, Issue 2, 2004, Pages 107-109
Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: A possible new feature?
Author keywords

Deletion 1p36 syndrome; Derivative chromosome; Monosomy 1p36; Redundant skin; Satellited chromosome
Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; MICROSATELLITE MARKER; MONOSOMY; MONOSOMY 1; NECK; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DISEASE; CHROMOSOME 1; CONGENITAL MALFORMATION; FACE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; INFANT; LETTER; PATHOLOGY; SKIN;
EID: 7444233627     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200404000-00011     Document Type: Article
Times cited : (8)
References (5)
  • 1
    • 0026628710 scopus 로고
    • Reciprocal translocation t(1;15)(p36.2;p11.2): Confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p)
    • Barbi G, Kennerknecht I, Klett C (1992). Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p). Am J Med Genet 43:722-725.
    • (1992) Am J Med Genet , vol.43 , pp. 722-725
    • Barbi, G.1    Kennerknecht, I.2    Klett, C.3
  • 2
    • 0029817911 scopus 로고    scopus 로고
    • Monosomy 1p36.31 ∼33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis
    • Blennow E, Bui TH, Wallin A, Kogner P (1996). Monosomy 1p36.31 ∼33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. Am J Med Genet 65:60-67.
    • (1996) Am J Med Genet , vol.65 , pp. 60-67
    • Blennow, E.1    Bui, T.H.2    Wallin, A.3    Kogner, P.4
  • 3
    • 0038406165 scopus 로고    scopus 로고
    • Physical map of 1p36, placement of breakpoints in monosomy 1p36 and clinical characterization of the syndrome
    • Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. (2003). Physical map of 1p36, placement of breakpoints in monosomy 1p36 and clinical characterization of the syndrome. Am J Hum Genet 72: 1200-1212.
    • (2003) Am J Hum Genet , vol.72 , pp. 1200-1212
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3    Lewis, R.A.4    Stal, S.5    Kashork, C.D.6
  • 4
    • 0033851883 scopus 로고    scopus 로고
    • An optimized set of human telomere clones for studying telomere integrity and architecture
    • Knight SJL, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, et al. (2000). An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332.
    • (2000) Am J Hum Genet , vol.67 , pp. 320-332
    • Knight, S.J.L.1    Lese, C.M.2    Precht, K.S.3    Kuc, J.4    Ning, Y.5    Lucas, S.6
  • 5
    • 0032898935 scopus 로고    scopus 로고
    • Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
    • Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, et al. (1999). Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 8:313-321.
    • (1999) Hum Mol Genet , vol.8 , pp. 313-321
    • Wu, Y.Q.1    Heilstedt, H.A.2    Bedell, J.A.3    May, K.M.4    Starkey, D.E.5    McPherson, J.D.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.