10 documents found, page 1 of 1

Pachydysostosis of the Fibula in a Case of Familial Adenomatous Polyposis.

Background: Familial Adenomatous Polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome caused by germline APC mutations and characterised by an increased risk of CRC and colonic polyps and, in certain forms, of specific prominent extraintestinal manifestations, namely osteomas, soft tissue tumours and dental anomalies. Pachydysostosis of the fibula is a rare clinical entity defined by unilateral ...

SÍNDROME DE MARFAN

BRUGADA SYNDROME: A 9 YEAR RETROSPECTIVE ANALYSIS

Copy number variants prioritization after array-CGH analysis - a cohort of 1000...

Background: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria wh...

Síndrome de Noonan. Reavaliação clínica e estudo molecular de 16 casos

Resumo O Síndrome de Noonan (SN, MIM#163950) é uma patologia do desenvolvimento caracterizada por dismorfia facial típica, baixa estatura e cardiopatia congénita. Tem uma frequência estimada de 1:1000-2500 nascimentos e transmissão autossómica dominante, com neomutações frequentes. Em 30-60% dos casos é possível identificar uma mutação no gene PTPN11. Foram reavaliados clínica, laboratorial e cognitivamente 16 ...

A síndrome de Smith-Lemli-Opitz: características fenotípicas e genotípicas dos ...

A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários órgãos (salientando-se as do esqueleto e do aparelho urogenital), restrição de crescimento intra-uterino (RCIU), alterações comportamentais e atraso mental. É caus...

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically ...

Abstract Background: Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q32.3 deletion as a clinically recognizable disorder, more patients were reported with a critical region proposed and candidate genes pointed out. Results: We report two female patients...

Identification of novel L2HGDH gene mutations and update of the pathological sp...

L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on the L2HGDH gene have been associated with the clinical and biochemical phenotype. Here we present three novel mutations (Gln197X, Gly211Val and c.540+1 G4A), which increase the present deleterio...

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or rela...

Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbation...

An explanation for another familial case of Rett syndrome: maternal germline mo...

Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10,000-15,000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients. The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the paternal germline X chromosome and can th...