20p111

20p11.1

Publication Details

  • Garcia-Heras J, Kilani R A, Martin R A, Lamp S.: A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism. Clin. Dysmorphol. 14:137-140, 2005. [PubMed: 15930903]
    Mother=mos46,XX[15]/46,XX,del(20)(p11.1p12)-blood.,Patient=46,XY,der del(20)(p11.1p12)mat.
    The newborn, now 6 months old and developing normally, phenotype included panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 20p-
    Index Terms: Panhypopituitarism

  • Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic I F, Beensen V, Calussen U, Liehr T.: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. DOI=10.1007.s004390100459, 2001. [PubMed: 11354630]
    Prenatal case 10=47,XX,+mar[20].cenM-FISH+der(20)(p11.1->q11.1).
    Chromosomal Aneuploidy: 20p and q+
    Index Terms: cenM-FISH