Neurological Disorders in Patients With Chromosomal Anomalies

Distal 15q trisomy with Dandy-Walker malformation in a female infant

“…Our case had severe brain anomalies including hydrocephalus, Dandy-Walker cyst, agenesis of corpus callosum and hypoplasia of temporal operculum. Dandy-Walker malformation is frequently associated with other malformations (Hart et al, 1972), and rarely observed in some cases with chromosome abnormalities such as trisomy 9, trisomy 8p and trisomy 5p (Kunz, 1980). Etiology of Dandy-Walker malformation remains unknown, bat there are probably variable causes.…”

Methods and strategies for analyzing copy number variation using DNA microarrays

“…From the earliest days of human cytogenetics with the study of chromosomes under the microscope, variation in chromosome copy number, rearrangement and structure was identified and in many cases could be associated with disease. One of the first observations was that an additional copy of chromosome 21 was associated with Down’s syndrome1, and many other syndromes later became associated with visible deletions or duplications of chromosomal material2-4. Seemingly benign chromosome variation in normal individuals was also identified, particularly in the size of regions of heterochromatin on chromosomes 1, 9 and 16 (ref.…”

Congenital Malformations and Chromosomal Aberrations

“…This problem has been raised for a long time in the hope of understanding the origin of mental retardation which is almost uni versally severe in autosomal aberrations [5,6], This is a difficult problem as few neuropathological series exist, descriptions are of ten dispersed and specialized books laconic [7], For a recent and well-documented series refer to Gullotta et al [8] and for work in progress refer to della Giustina and Forabosco [9], For the essentials of neuropathologic constellations associated with the three main trisomia refer to the series reported by Warkany et al [10] and Gullotta et al [8] (table I).…”