RESUMO
Although it is known that the parental carriers of chromosomal translocation are considered to be at high risk for spontaneous abortion and embryonic death, normal gestation and delivery remain possible. This study aims to investigate the genetic factors of a Chinese infant with multiple malformations and severe postnatal development retardation. In this study, the routine cytogenetic analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis were performed. Conventional karyotype analyses revealed normal karyotypes of all family members. CMA of the DNA of the proband revealed a 8.3Mb duplication of 5q35.1-qter and a 6.9Mb deletion of 11q24.3-qter. FISH analyses verified a paternal tiny translocation between the long arm of chromosomes 5 and 11. Our investigation serves to provide important information on genetic counselling for the patient and future pregnancies in this family. Moreover, the combined use ofCMAand FISH is effective for clarifying pathogenically submicroscopic copy number variants.
RESUMO
Objective To investigate the effects of malnutrition,nephrosis itself and glucocorticoid therapy on serum thyroid hormone,illustrate the relationship between serum thyroid hormone and renal IGF-I/IGFBPs autocrine/paracrine in nephrotic rats.Methods Twenty-four male Sprague-Dawley(SD) rats were randomly divided into control,pair-fed,doxorubicin(5mg/kg)-induced nephrotic and dexamethasone treated nephrotic(des-treated) rats.Serum T 3,T 4 and GH were measured by RIA,renal GHR and IGF-I/IGFBPs mRNA were analyzed by radioreceptor assay and RT-PCR respectively.Results ⑴Serum thyroid hormone levels were decreased by degrees according normal rats,pair-fed rats,nephrotic rats and lowest in des-treated rats except for high serum T 4 in pair-fed rats showed increasing trendency.⑵Reduced serum thyroid hormone was parallel well with decreased renal GHR and IGFBP-2 mRNA,and correlated negatively with increased renal IGFBP-3 mRNA.⑶There was some significant correlation positively between nose-tail length or weight and serum thyroid hormone.Conclusions The hypothyroidism is a possible mechanism of IGFBPs autocrine/paracrine disorder and further growth retardation in nephrotic syndrome.