New arrays for structural abnormality

More documents

Recommendations

Info

another demonstration thatthe dicentric originates at MIand it is not postzygoticThe duplication regionof the inv dup del(8p)contains two maternaland one paternal alleleMarker Position Alleles StatusD8S504 1004 1 DD8S264 2117 1 DD8S201 3027D8S1824 3540D8S262 3664D8S518 4475D8S277 6504D8S1819 6737 1 DMSAT3 7750ORREPDD8S503 9270 1, 2 ND8S1721 10178 1, 2 ND8S520 10593 1, 2 ND8S550 10990D8S265 11317ORREPPD8S552 12752 1, 2, 3 DupD8S511 14690 1, 2, 3 DupD8S549 15660D8S254 16618 1, 2, 3 DupD8S261 17836 1, 2, 3 DupD8S258 20377 1, 2, 3 DupD8S282 21425 1, 2, 3 DupD8S1734 22817 1, 2, 3 DupD8S1771 25463D8S1809 28213 1, 2, 3 DupD8S278 32606 1, 2 ND8S513 33727D8S1750 35470 1, 2 ND8S1821 38369 1, 2 ND8S255 39902 1, 2 ND8S268 41264 1, 2 ND8S1115 42554D8S531 49074 1, 2 N
The rearrangement occurs at MI through NAHR;the dicentric chromosome can beeither immediately broken at MIIorbe inherited as such in the zygotesome inv dup del (8p) cases in mosaic withdifferent derivatives of the original dicentric:üpresence of the dicentric in the zygote;üthe occurrence of different cell linesin the early embryogenesis;üthe most viable one(s) will be detected at birth
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 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 34 and 35: postzygotic formation of translocat
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

Create successful ePaper yourself

Delete template?

Save as template?