Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation
نویسندگان
چکیده
منابع مشابه
Association of Dandy-Walker Malformation and Neurocutaneous Melanosis in a Newborn: A Case Report
Background: This case report presents a very rare Dandy-Walker malformation (DWM) in association with a sporadic condition characterized by congenital melanocytic nevi and melanocytic thickening of the leptomeninges called Neurocutaneous melanosis (NCM). The DWM is a rare congenital disorder characterized by enlarged posterior fossa and a cystic enlargement of the four...
متن کاملDandy-Walker Malformation
Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but the syndrome exists whenever these three features are found. A...
متن کاملDandy-Walker Malformation Presenting with Psychological Manifestations
Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is kn...
متن کاملTrigeminal neuralgia in a patient with Dandy-Walker malformation.
BACKGROUND Trigeminal neuralgia may be idiopathic or secondary to a number of cranial pathologies. We report a novel case of trigeminal neuralgia associated with Dandy-Walker malformation, which may be an etiologic factor. CASE DESCRIPTION A 32-year-old male presented with shock-like pain in the somatosensory distribution of the right trigeminal nerve, which was refractory to all medication. ...
متن کاملA Clinical Case with Pmm2-cdg and Dandy-walker Malformation
M. Stancheva1, I. Kremenski2, M. Apostolova3 , J. Jaeken4, E. van Schaftingen5, G. Matthijs6, N. Ivanova3, V. Bojinova7, B. Radeva8, P. Perenovska1, K. Vladimirova2, R. Vajarova2 and D. Todorova7 1Department of Pediatrics, University Children`s Hospital “ Alexandrovska”, So a, Bulgaria 2National Genetic Laboratory, So a, Bulgaria 3Bulgarian Academy of Science, Laboratory for Medico-biological R...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.38.1.67