Autosomal mendelian disorders and microcytogenetics

The development of cytogenetic high resolution banding techniques has allowed the observation of specific chromosome rearrangements--i.e. microdeletions, translocations--in patients with morbid conditions suspected to have a genetic component but for which a precise etiology had not, or rarely, been...

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Bibliographic Details
Published in:	Recenti progressi in medicina Vol. 81; no. 5; p. 337
Main Authors:	de Grouchy, J, Turleau, C
Format:	Journal Article
Language:	English
Published:	Italy 01-05-1990
Subjects:	Chromosome Aberrations - genetics Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 8 Humans Monosomy Syndrome Trisomy
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Summary:	The development of cytogenetic high resolution banding techniques has allowed the observation of specific chromosome rearrangements--i.e. microdeletions, translocations--in patients with morbid conditions suspected to have a genetic component but for which a precise etiology had not, or rarely, been recognized. The most striking examples are retinoblastoma, the WAGR complex, Beckwith-Wiedemann syndrome, Langer-Giedion syndrome, Prader-Willi syndrome, Miller-Dieker syndrome and others, which thus could be mapped to the genome. Molecular technology further allowed in a number of cases cloning of the genes proper or of linked DNA polymorphisms permitting genetic counseling.
ISSN:	0034-1193