Zobrazeno 1 - 3
of 3
pro vyhledávání: '"I F, Gershin"'
Publikováno v:
American journal of medical genetics. 102(1)
We report on a 4(1/2)-year-old girl, who presented with multiple minor anomalies consistent with trisomy for 4p. GTG-banding identified a de novo terminal inversion duplication of distal 4p, dup(4)(p16.3p15.3). Fluorescence in situ hybridization (FIS
Autor:
P, Ashton-Prolla, I F, Gershin, A, Babu, R L, Neu, R E, Zinberg, J P, Willner, R J, Desnick, P D, Cotter
Publikováno v:
American journal of medical genetics. 73(4)
An apparently unbalanced karyotype containing an abnormal chromosome 11 was identified in a 16-week female fetus by analysis of cultured amniocytes. Fluorescence in situ hybridization (FISH) with a chromosome 11 paint identified the presence of an in
Publikováno v:
American journal of medical genetics. 71(3)
A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confi