منابع مشابه
Chromosome 11q13 deletion syndrome
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome ...
متن کاملChromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...
متن کاملClinical variability of chromosome 22q11.2 deletion syndrome
22q11.2 deletion syndrome (22q11.2 DS) is a disorder that has multiple symptoms and affects various organs and systems. Despite the great variability of clinical manifestations, common 22q11.2 DS includes congenital heart defect, immunodeficiency, characteristic facial features, palatal defects, developmental and/or learning disabilities, and hypocalcaemia. We present the cases of three patient...
متن کاملMoebius syndrome . Deletion of chromosome 13 in
A girl aged 21⁄2/ years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13Xq12.2)). This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13. Moebius syndrome (MS) consists of congenital facial...
متن کاملLocalization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.
The gene for multiple endocrine neoplasia type 1 (MEN1), an inherited predisposition to neuroendocrine neoplasm of the parathyroid glands, the pancreatic islet parenchyma, and the anterior pituitary gland, was recently mapped to chromosome 11q13 based on genetic linkage in families. We now show that the pathogenesis of MEN1-associated parathyroid lesions involves unmasking of a recessive mutati...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2016
ISSN: 1738-1061,2092-7258
DOI: 10.3345/kjp.2016.59.11.s10