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Article
Open AccessPartial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and ca...
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Article
Open AccessMelorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understo...
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Article
Open AccessOpposite effects on facial morphology due to gene dosage sensitivity
Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from del...
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Article
Open AccessMutation spectrum of MLL2 in a cohort of kabuki syndrome patients
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormaliti...
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Article
Open AccessDecreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a prot...
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Article
Open AccessJacobsen syndrome
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 bi...
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Article
A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome
Introduction: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3β-hydroxysterol Δ7-reduct...
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Poster
Objective: One of the most powerful medications that have very broad aspects of clinical application are the selective serotonin reuptake inhibitors (SSRI). We use SSRI as a first choice agents in tr...
