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Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24).
Aviram-Goldring, A; Daniely, M; Frydman, M; Shneyour, Y; Cohen, H; Barkai, G.
Afiliação
  • Aviram-Goldring A; Genetic Institute, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel.
Am J Med Genet ; 90(2): 120-2, 2000 Jan 17.
Article em En | MEDLINE | ID: mdl-10607949
Congenital diaphragmatic hernia (CDH) is a relatively common malformation of unknown cause with high mortality due to hypoplasia of the lungs and pulmonary hypertension. We studied a family in which two fetuses had CDH, and two pregnancies resulted in first trimester missed abortions. Both fetuses with CDH had an apparently normal karyotype. In a subsequent pregnancy, fluorescent in situ hybridization analysis of amniocytes showed a balanced translocation 46,XY, t(5;15) (p15.3;q24) also present in the mother and in a normal child, suggesting that the diaphragmatic hernia in the first two fetuses was caused by a cryptic unbalanced translocation. This hypothesis is supported by a previous observation of CDH in a distal deletion of 15q as part of a multiple congenital anomalies syndrome. It is suggested that a gene distal to 15q21 is important for the normal development of the diaphragm.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 5 / Cromossomos Humanos Par 15 / Hérnias Diafragmáticas Congênitas Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet Ano de publicação: 2000 Tipo de documento: Article País de afiliação: Israel
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 5 / Cromossomos Humanos Par 15 / Hérnias Diafragmáticas Congênitas Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet Ano de publicação: 2000 Tipo de documento: Article País de afiliação: Israel