The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2

The 18q- syndrome is one of several terminal deletion disorders that occur in humans. Previous G-banding studies suggest that the loss of a critical band, 18q21.3, results in mental retardation, craniofacial anomalies, and metabolic defects. However, it is difficult to reconcile the consistent loss...

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Veröffentlicht in:	American journal of human genetics 1995-04, Vol.56 (4), p.926-937
Hauptverfasser:	Silverman, G A, Schneider, S S, Massa, H F, Flint, A, Lalande, M, Leonard, J C, Overhauser, J, van den Engh, G, Trask, B J
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Deletion Chromosomes, Human, Pair 18 Flow Cytometry Humans In Situ Hybridization, Fluorescence Karyotyping Polymerase Chain Reaction Syndrome
Online-Zugang:	Volltext
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