New arrays for structural abnormality

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postzygotic formation of translocations is considereda rare event in absence of mosaicismthe parental origin of nonmosaic unbalanced translocationsis usually stated by testing microsatellites for the deletion regionmaking impossible to detect any disagreementwith the parental origin of the duplicated chromosomepostzygotic translocations may be more frequentthan ever suspected
Mechanisms of ring formation
Page 1: new and developing technologies for
Page 4 and 5: distal deletion at Xpdemonstrated b
Page 6 and 7: 46,XX,der(8)t(8;17)(p22.3;p12)de no
Page 8 and 9: 8 Del(8)(23.1pter)Breakpoint:6,90
Page 10 and 11: Stabilization of a terminal inversi
Page 12 and 13: The inv dup del(8p) syndrome
Page 14 and 15: the dicentric chromosome derives fr
Page 16 and 17: Does the reciprocal productof the d
Page 18 and 19: another demonstration thatthe dicen
Page 20 and 21: cultured chorion villi:inv dup del(
Page 22 and 23: A third cell line found in the cult
Page 24 and 25: the zygote may receive thedicentric
Page 26 and 27: Abuelo et al, 2000AJMG AHMGAJMG46,X
Page 28 and 29: how many times in de novo unbalance
Page 30 and 31: How can we discriminatebetween a pr
Page 32 and 33: Molecular and cytogenetic analysis
Page 36 and 37: Array-CGH prophile (100 kb resoluti
Page 38 and 39: Array-CGH prophile (100 kb resoluti
Page 40 and 41: Ring chromosomes may have the same
Page 42 and 43: Dicentric chromosomes, both from NA
Page 44 and 45: How can we discriminatebetween a pr
Page 46 and 47: To prove that de novo unbalanced tr

New arrays for structural abnormality

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