Mostrando 1 - 2 Resultados de 2 Para Buscar '"Subtel"', tiempo de consulta: 0.12s Limitar resultados
  1. 1
    “…The final skin fibroblast karyotype was interpreted as 47,XX,+der(3).ish inv dup(3)(qter-q25.33::q25.33-qter)(subtel 3q+,subtel 3q+) de novo. CONCLUSION: In addition to the eight reported cases of analphoid inversion-duplication 3q supernumerary marker in the literature, this is yet another case of 3q sSMC with a new breakpoint at 3q25.33 and with varying phenotype as described in the case report. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
  2. 2
    “…She had a paternal derivative satellited 6q of a t(6;22)(q25.3;p12)pat entailing a 6q terminal deletion, karyotype 46,XX,der(6)t(6;22)(q25.3;p12)pat [16].ish del 6q subtel–. CONCLUSION: Male and female carriers of reciprocal translocations or insertions between chromosome 6 and the short arm of any acrocentric have few unbalanced offspring mostly by adjacent‐1 segregation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short‐lived infant
Herramientas de búsqueda: RSS