Mitochondrial Disorders Overview

Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Oxidative Phosphorylation Disorders, Respiratory Chain Disorders   Patrick F Chinnery, PhD, FRCPath, FRCP, FMedSci Institute of Human Genetics Newcastle University Newcastle upon Tyne, United Kingdom p.f.chinnery@newcastle.ac.uk Initial Posting: June 8, 2000; Last Update: September 16, 2010. Summary Go to: Disease characteristics. Mitochondrial diseases are a clinically heterogeneous group of disorders that…

Wolf-Hirschhorn syndrome

Reviewed: January 2009 Published: March 19, 2012 by       http://ghr.nlm.nih.gov A service of the U.S. National Library of Medicine®   What is Wolf-Hirschhorn syndrome? Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability,…

Microarray-based Comparative Genomic Hybridization (aCGH)

By: Aaron Theisen, Ph.D. © 2008 Nature Education Citation: Theisen, A. (2008) Microarray-based comparative genomic hybridization (aCGH). Nature Education 1(1) Move over karyotypes—genetic disorder detection has vastly improved. Researchers are now using array CGH (aCGH), to quickly scan through an entire genome for imbalances.   1 Introduction 2 Combining CGH with Microarrays: The Development of…

Clinical / Medical Genetics officially recognized as an EU-wide specialty

Dear Colleagues, On March 3rd, 2011 the Commission adopted Regulation (EU) No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications. This administrative act implies that the clinical / medical genetics specialty was officially recognised as an EU- wide specialty and…

FILAMINOPATHY

Quoted from OMIM#609524 MYOPATHY, MYOFIBRILLAR, 5; MFM5   Alternative titles; symbols MYOPATHY, MYOFIBRILLAR, FILAMIN C-RELATED FILAMINOPATHY, AUTOSOMAL DOMINANT   Phenotype Gene Relationships Location Phenotype Phenotype MIM number Gene/Locus Gene/Locus MIM number 7q32.1 Myopathy, myofibrillar, 5 609524 FLNC 102565   Clinical Synopsis   TEXT A number sign (#) is used with this entry because filamin C-related…

MESAJ DE BUN VENIT

Societatea Română a Consilierilor Genetici (SRCG) este o societate in curs de constituire ce reuneste psihologi, medici, moașe și alte cadre cu studii superioare, care au urmat sau urmează un program masteral de minim 2 ani în Consilierea Genetică, cât și membri din profesii asociate, avand drept scop promovarea consilierii genetice in rândul specialitatilor medicale, psihologice și de…

Brown-Vialetto-van Laere syndrome

Sensorineural hearing loss – pontobulbar palsy Orpha number ORPHA97229 Prevalence of rare diseases <1 / 1 000 000 Inheritance Autosomal recessive Age of onset Childhood ICD 10 code G12.2 MIM number 211530 Synonym(s) Sensorineural hearing loss – pontobulbar palsy   Summary Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy…

Viața cu Langdon Down / Living with Down syndrome

Maladia isi trage numele de la englezul John Langdon Down, care a descris un anume “sindrom mongolian” in 1866. Aproape 100 ani mai tarziu, in 1959, boala a fost identificata ca fiind cromozomiala (“cromozomopatie”) de catre pediatrul si geneticianul francez Jerome Lejeune, fiind cunoscuta si sub numele Trisomia21. Nu o sa insitam acum asupra elementelor…

Surditatea genetica – Hearing Loss & Genetics

From hearing.harvard.edu – Very nice ppt presentation: Hearing Loss & Genetics: Understanding the Basics Anna Frangulov, B.S. Research Coordinator. Children’s Hospital Boston Why Hearing Loss is so common – click here for the ppt file From: GeneReviews™ [Internet] Deafness and Hereditary Hearing Loss Overview Richard JH Smith, MD, A Eliot Shearer, Michael S Hildebrand, PhD,…

Apert syndrome

        http://ghr.nlm.nih.gov   What is Apert syndrome? Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused…

Aicardi-Goutieres syndrome

Orpha number ORPHA51 Prevalence of rare diseases <1 / 1 000 000 Inheritance Autosomal dominant Autosomal recessive Age of onset Neonatal/infancy ICD 10 code G31.8 MIM number 225750 610181 610329 610333 612952 Synonym(s) Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid   Summary Aicardi-Goutières syndrome (AGS) is an…