1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations
نویسندگان
چکیده
منابع مشابه
New Insights into Antisynthetase Syndrome.
Antisynthetase syndrome (ASS) is a rare chronic autoimmune disorder (2-3 times more common in women than in men), associated with interstitial lung disease (the most important feature), dermatomyositis (DM), and polymyositis (PM). The cause of ASS is unknown. Recent developments in immunology have improved our knowledge and it is now possible to classify ASS according to the presence of myositi...
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The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The l...
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The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearin...
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[2]. Sporadic cases constitute two thirds of tuberous sclerosis cases. TSC2 mutations are about four times more frequent in sporadic cases compared to TSC1 mutations and cause a more severe phenotype [3]. Autosomal dominant polycystic kidney disease (ADPKD, MIM#173900) is a common renal disorder, occurring in approximately 1 in every 1,000 live births [4]. It is characterized by progressive bil...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2018
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.40426