Nada L. Quercia

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We analyzed the clinical phenotype and determined the recurrence risks to relatives of patients with T14484C Leber's hereditary optic neuropathy (LHON). LHON is a maternally inherited optic neuropathy that primarily affects adolescent males. It is usually associated with one of three mtDNA mutations: G3460A, G11778A, or T14484C. Definition of recurrence(More)
A new lethal form of acrofacial dysostosis (AFD) syndrome was delineated by Rodriguez et al. [Rodriguez et al. (1990); Am J Med Genet 35:484-489]. We report on a male fetus with mandibulofacial dysostosis, including phocomelia-like upper limb deficiencies and lower limb anomalies which are characteristic of AFD Rodriguez type. The diagnosis was made on(More)
With the increasing awareness of genetic contributions to disease in Canada, the availability of and demand for genetic testing has soared. Genetic counseling is becoming a recognized and rapidly growing (yet unregulated) health profession in Canada. We hypothesized that the potential risk for harm to the public posed by genetic counseling practice in the(More)
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy-number variations (CNVs), often followed by gene(s)-specific sequencing searching for smaller insertion–deletions (indels) and single-nucleotide variant (SNV) mutations.(More)
The etiology of mental retardation (MR), often presenting as developmental delay in childhood, is unknown in approximately one-half of cases. G-banding is the standard method for investigating those suspected of having a chromosomal etiology; however, detection of structural abnormalities is limited by the size and pattern of the G-bands involved.(More)
Friedreich ataxia (FRDA) is the most common cause of childhood onset ataxia. We report on a 4 year old boy who suffered sudden cardiac death and was found to have a dilated cardiomyopathy with left ventricular hypertrophy on post-mortem studies. Molecular genetic testing subsequently confirmed the diagnosis of Friedreich ataxia. To our knowledge, this is(More)
The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and(More)
OBJECTIVE To evaluate status of conjunctival fibrillin-1 in patients with Marfan syndrome with ectopia lentis. METHODS Frozen sections of conjunctiva from 6 patients with Marfan syndrome with ectopia lentis and from 15 age-matched control subjects were stained with mouse antihuman fibrillin-1 antibody, using an avidin biotin immunoperoxidase technique.(More)
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary(More)
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene, which encodes the protein aprataxin. Clinical features include gait and limb ataxia, dysarthria, oculomotor apraxia, mild peripheral neuropathy and progression of neurological(More)