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De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sTwo mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeresMolecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.Large inverted duplications in the human genome form via a fold-back mechanism.Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements
P2860
Q28728448-1A9698A4-9506-4918-B1C2-8419498C3A36Q33323247-FA870FBB-BC69-4358-BB8D-DD4A6E9605C8Q37004771-BA941C58-5567-49D0-95DB-519CDEEFFD85Q41901006-91417552-70EF-4E4B-9E61-AA11825E5B5FQ42143538-E38C5708-FD1D-4AD5-B055-04B4BD12421BQ43168469-14036C9B-6BE2-40E9-B5F2-A368F326E369Q45229258-91AEEC22-97F9-4602-A3ED-CBBCA4841569Q51892855-CFB37A02-3DCF-4E85-8303-9A5486E2C9D6Q56977193-C618B566-7724-4976-A967-282243CF7B9E
P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
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2004年论文
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name
Inverted duplications: how many of them are mosaic?
@en
type
label
Inverted duplications: how many of them are mosaic?
@en
prefLabel
Inverted duplications: how many of them are mosaic?
@en
P2093
P2860
P50
P356
P1476
Inverted duplications: how many of them are mosaic?
@en
P2093
Barbara Pirola
Claudio Lombardi
Gaetano Mannino
Giuliana Gregato
Maria Grazia Patricelli
Roberto Ciccone
Susi Scappaticci
Tiziano Pramparo
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201240
P577
2004-09-01T00:00:00Z
P5875
P6179
1032692531