RESUMO
OBJECTIVE: To confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques. METHOD: G-band karyotyping was performed for all the 6 members in the family. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the chromosome abnormality for the proband, his father and brother. Microarray comparative genomic hybridization (Array-CGH) was carried out to map the exact chromosomal breakpoints for the proband. RESULT: The proband presented with a typical face, delayed growth and hypotonia in Wolf-Hirschhorn syndrome. His G-band karyotype was 46, XY, der(4)t(4;8) (p16.2; p23.1)pat. MLPA showed 4pter loss and 8pter gain. Array-CGH revealed an XY male with a 3.781 Mb deletion of 4p16.3-p16.2 and a 6.760 Mb duplication of 8p23.3-p23.1. The proband's brother has mental retardation and skeletal abnormalities. His G-band karyotype was 46, XY, der(8)t(4;8)(p16.2;p23.1)pat. MLPA showed 4pter gain and 8pter loss. The proband's father had normal phenotype with a balanced translocation of 46, XY, t(4;8)(p16.2;p23.1)pat. MLPA showed a normal result. The proband's grandfather showed a normal phenotype with a balanced translocation 46, XY, t(4;8)(p16.2;p23.1). The other members in the family showed normal phenotypes with normal karyotypes. CONCLUSION: The proband has features of Wolf-Hirschhorn syndrome with partial monosomy 4p and partial trisomy 8p. The proband's brother has a partial trisomy 4p and partial monosomy 8p. The derived chromosomes are inherited from paternal balanced translocation t(4;8)(p16.2;p23.1).
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 8/genética , Hibridização Genômica Comparativa , Reação em Cadeia da Polimerase Multiplex/métodos , Translocação Genética , Trissomia , Síndrome de Wolf-Hirschhorn/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Cromossomos Humanos Par 4/genética , Feminino , Humanos , Lactente , Cariotipagem , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Linhagem , Fenótipo , Síndrome de Wolf-Hirschhorn/genéticaRESUMO
Two C(18)-diterpenoid alkaloids, puberunine (1) and puberudine (2), together with four other new alkaloids, including the first examples having ß-oriented substitution at C-3 and a rare chloro-substituent were isolated from Aconitum barbatum var. puberulum. Their structures were elucidated by spectroscopic methods. Puberunine and puberudine, which possess a unique rearranged E ring and an opened A ring, respectively, represent new subtypes of the C(18)-diterpenoid alkaloids. A plausible biosynthetic pathway of 1 and 2 was proposed.
