New arrays for structural abnormality

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Molecular and cytogenetic analysis of the spreadingof X inactivation in a girl with microcephaly, milddysmorphic features and t(X;5)(q22.1;q31.1Giorda et al, 2008 EJHGtranscriptional activity of a number of chromosome 5 lociby RTPCR analysisde novoXq deletion5q duplication
Xq deletion occurred on the mat chrom. X5q duplication occurred on the pat chrom. 5:a postzygotic rearrangementMolecular typing performed on proband and parents +a somatic cell hybrids containing the normal X +a clone containing both the normal X and the der(X)was the der(X) formed bythe breakage of a dicentric chromosome X???Molecular typing performed on proband and parents +two somatic cell hybrids containing the pat and the mat chromosome 5*: duplicated alleles
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 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

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