A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
نویسندگان
چکیده
منابع مشابه
Sacrococcygeal Teratoma associated with Trisomy 13
Sacrococcygeal teratoma (SCT) is rarely associated with syndromes. We report a female newborn with a prenatal diagnosis of small sacrococcygeal teratoma and postnatally diagnosed as having trisomy 13. The sacrococcygeal teratoma was excised. It was reported as mature teratoma. The child succumbed to sepsis postoperatively.
متن کاملA novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex.
Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the lateral ventricles. T...
متن کاملSacrococcygeal Teratoma: A Case Report
Background: Neonatal tumors are usually prenatally diagnosed or within the irst 30 days of life. The true incidence ofneonatal tumors is unknown as a great number of pregnancies with a prenatally diagnosed mass result in stillbirth ormiscarriage. Most solid neonatal tumors are benign whereas less than 50% of neonatal neoplasms are malignant;however, some tumors with malignant ...
متن کاملTSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis
Purpose To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC. Methods Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confir...
متن کاملSACROCOCCYGEAL TERATOMA
31 cases of sacrococcygeal teratoma from the Children's Hospital of Ziirich and 25 cases from the Children's Hospital of Tehran are evaluated and compared. In seven cases the tumors were organized. They contained parts of organs or rudimentary extremities. According to general experience the malignancy of tumors is higher in children who are operated on after their second to fourth month o...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2020
ISSN: 2054-345X
DOI: 10.1038/s41439-020-00124-8