Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.
Guilherme, Roberta Santos; de Freitas Ayres Meloni, Vera; Sodré, Claudete Palmer; Christofolini, Denise Maria; Pellegrino, Renata; de Mello, Claudia Berlim; Conlin, Laura Kathleen; Hutchinson, Anne Lawlor; Spinner, Nancy Bettina; Brunoni, Decio; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel.
Am J Med Genet A
; 152A(11): 2865-9, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20979193
Ring 18 molecular assessment and clinical consequences.
Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India.
CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.
Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.
Correlación cariotipo - fenotipo en un paciente con sindrome cromosoma 13 en anillo
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.
[Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].
Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome.
[Application and modification of methods for chromosome culture, preparation and analysis].