Descriptive neuropathology of chromosomal disorders in man

• DOI: 10.1007/bf00281680
• Publication Date: 2004-10-04T03:50:20Z
• Authors: F. Gullotta; Helga Rehder; A. Gropp
• Keywords: Chromosome Aberrations; Male; 0301 basic medicine; Infant, Newborn; Brain; Chromosome Disorders; Trisomy; 03 medical and health sciences; Intellectual Disability; Humans; Female; Down Syndrome; Chromosomes, Human, 13-15; Chromosomes, Human, 16-18

Morphological investigations were carried out on brains of 274 foetuses and children with a verified chromosomal anomaly. In more than two thirds of these cases pathological changes were not detectable. In the other cases the most frequent findings were: (1) holoprosencephaly/arhinencephaly, mainly observed in trisomy 13, but also in one case each of trisomy 18 and trisomy 21; (2) corpus callosum defects, mainly found in trisomy 18, but also in some cases of trisomies 13 and 21; (3) cerebellar nerve cell heterotopias and cerebral microdysplasias, present mainly in trisomy 21, but also in trisomies 13 and 18 as well as in cases with different chromosomal syndromes; (4) small hamartomas of the brain stem were found in two cases of trisomy 18.