Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome
نویسندگان
چکیده
منابع مشابه
ONLINE MUTATION REPORT A 17p11.2 germline deletion in a patient with Smith- Magenis syndrome and neuroblastoma
N euroblastoma is the most frequently occurring extracranial tumour type in children. It arises from the undifferentiated neural crest derived cells destined to become the sympathetic nervous system, and primary tumours typically occur in the adrenal medulla and paraspinal location in the abdomen or chest. At diagnosis, most children of .1 year of age have metastases, commonly in lymph nodes, b...
متن کاملA 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma.
N euroblastoma is the most frequently occurring extracranial tumour type in children. It arises from the undifferentiated neural crest derived cells destined to become the sympathetic nervous system, and primary tumours typically occur in the adrenal medulla and paraspinal location in the abdomen or chest. At diagnosis, most children of .1 year of age have metastases, commonly in lymph nodes, b...
متن کاملDetection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome.
We report an eight years female child with clinical and molecular cytogenetic findings consistent with CATCH 22 syndrome characterized by cardiac defect, typical facial dysmorphism, mental deficiency and chromosome 22 q11.2 deletion. Interphase FISH with 22q 11.2 probe demonstrated hemizygous deletion in 98.5% nuclei. Interphase FISH for diagnosis of CATCH 22 syndrome has not been reported prev...
متن کاملA Rare Case of Eosinophilic Cholecystitis Presenting in a Patient with Thalassemia Intermedia; a Case Report
Eosinophilic cholecystitis is a rare inflammatory condition encountered in surgical cholecystectomy specimens. In terms of histopathology, it is defined by transmural infiltration of eosinophils composing more than 90% of leukocytes. We here report a case of 19-year-old male admitted with thalassemia intermedia and with severe left upper quadrant pain. The patient underwent open splenectomy and...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: npj Genomic Medicine
سال: 2016
ISSN: 2056-7944
DOI: 10.1038/npjgenmed.2016.15