Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia
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چکیده
منابع مشابه
A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
متن کاملa patient with interstitial 5q21 deletion, familial adenomatous polyposis, dysmorphic features, and profound neurologic dysfunction
familial adenomatous polyposis (fap) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the adenomatous polyposis coli (apc) gene on chromosome 5q21. patients with fap suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. fap has also been...
متن کاملCharacterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing
Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene. Those deletions were measured using multiplex ligation-dependent probe amplification. Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing. The deletion occurred in a patient diagnosed with Familial Adenoma...
متن کاملAPC promoter 1B deletion in seven American families with familial adenomatous polyposis.
Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven proba...
متن کاملIdentification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis
Introduction. The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC) gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP). Methods. We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transvers...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2018
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000492516