22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report
نویسندگان
چکیده
منابع مشابه
22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report
BACKGROUND Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS A 23-year-old African woman presented for the first trimester echography, which revealed an isolated a...
متن کاملHypoparathyroidism and 22q11 deletion syndrome.
AIMS To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS Sixty...
متن کامل22q11 Deletion Syndrome and Multiple Complex Developmental Disorder: A Case Report
22q11.2 Deletion Syndrome (22q11 DS) is a multisystemic condition that may also include neuropsychiatric disorders. We present a case of a 15-year-old boy that was evaluated for social difficulties, and anxiety with the above genetic abnormality. Clinical features were rather complex as different neuropsychiatric symptoms emerged from assessment and clinical evaluation. As a result we propose t...
متن کامل22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is as...
متن کاملA case report of 22q11 deletion syndrome confirmed by array-CGH method
Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with cleft palate. Most of the 22q11.2 deletion cases are new occurrences or sporadic; however, in about 10 % of families, t...
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ژورنال
عنوان ژورنال: Frontiers in Medicine
سال: 2016
ISSN: 2296-858X
DOI: 10.3389/fmed.2016.00053