Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Cerebellar atrophy in a patient with velocardiofacial syndrome Lynch DR; McDonald-McGinn DM; Zackai EH; Emanuel BS; Driscoll DA; Whitaker LA; Fischbeck KHJ Med Genet 1995[Jul]; 32 (7): 561-3Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.|*Abnormalities, Multiple/genetics[MESH]|*Chromosome Deletion[MESH]|*Cleft Palate/genetics[MESH]|*Heart Septal Defects, Atrial/genetics[MESH]|Adult[MESH]|Atrophy[MESH]|Cerebellum/*pathology[MESH]|Chromosome Aberrations/*pathology[MESH]|Chromosome Disorders[MESH]|Chromosomes, Human, Pair 22/*ultrastructure[MESH]|Developmental Disabilities/genetics[MESH]|Face/*abnormalities[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Neuropsychological Tests[MESH]|Syndrome[MESH] |
