Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/193617
Type: Artigo de periódico
Title: A Case Of De Novo I(12p) With 12q Whole-arm Translocation Mosaicism.
Author: Marques-de-Faria, A P
Hackel, C
Abstract: We report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies.
Subject: Child, Preschool
Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 7
Electrophoresis, Polyacrylamide Gel
Female
Humans
Infant
Isoenzymes
Karyotyping
L-lactate Dehydrogenase
Mosaicism
Translocation, Genetic
Rights: fechado
Identifier DOI: 10.1002/ajmg.1320330407
Address: http://www.ncbi.nlm.nih.gov/pubmed/2596503
Date Issue: 1989
Appears in Collections:Unicamp - Artigos e Outros Documentos

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