High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

摘要: The breakpoints of seven interstitial deletions the long arm chromosome 16 and two ring chromosomes this were mapped by in situ hybridisation or analysis mouse/human somatic cell hybrids containing deleted 16. Use a high resolution cytogenetic based physical map enabled to be assigned an average at least 1.6 Mb. In general, involving q12 q22.1 have broadly similar phenotypes though there are differences specific abnormalities. Deletions regions more distal, from 16q22.1 16q24.1, associated with relatively mild dysmorphism. One region arm, q24.2 q24.3, was not involved any deletion, either study previous report. Presumably, monosomy for is lethal. contrast, patients 16q21 normal phenotype. These results consistent proposed distribution genes, frequent telomeric Giesma light band but infrequent G positive bands.