Mosaic tetrasomy 9p: a mendelian interferonopathy associated with pediatric-onset overlap myositis

نویسندگان

  • M-L Frémond
  • C Gitiaux
  • D Bonnet
  • T Guiddir
  • Y Crow
  • L de Ponthual
  • B Bader-Meunier
چکیده

Background and objectives Pediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. They result from the complex interaction between genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified. They mostly include monogenic conditions, especially type I interferonopathies, associated with an up-regulation of type I interferon (IFN), a key cytokine in SLE and some IM pathogenesis.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

Pediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. Both result from the complex interaction of genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified. These include monogenic conditions, referred to as the type I interferonopathies, associa...

متن کامل

Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.

Tetrasomy 9p is a rare clinical syndrome and about 30% of known cases exhibit chromosome mosaicism. The cases with tetrasomy 9p mosaicism have been reported to show the various phenotypes. On the other hand, Klinefelter syndrome is well recognized chromosomal abnormality caused by an additional X chromosome in males (47,XXY), and the characteristic clinical findings include tall stature, immatu...

متن کامل

Tetrasomy 9p confirmed by GALT.

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case wit...

متن کامل

Congenital diaphragmatic hernia in a patient with tetrasomy 9p.

Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the...

متن کامل

Tetrasomy 9p: confirmation by enzyme analysis.

A 4-day-old Caucasian male presented with midline defects of the skull and face and extensive skeletal malformations. Chromosome analysis of peripheral blood lymphocytes showed tetrasomy 9p (47,XY, + i(9p) with no evidence of mosaicism. Confirmation of the cytogenetic interpretation was obtained from the assay of the enzyme galactose-1-P uridyl transferase, the locus for which is on 9p, which s...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 13  شماره 

صفحات  -

تاریخ انتشار 2015