Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.
about
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.Micro-duplications of 1q32.1 associated with neurodevelopmental delay.A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism.Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.Partial 1q Duplications and Associated Phenotype.Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2.
P2860
Q33606086-47720002-5A1F-4FBD-90BF-60BA0D8E7D4CQ35782965-6D79EF65-3380-4200-BC33-2EFB86994A3DQ36660655-37268176-0FB8-4EE6-916C-353DE2A0EE0FQ38200057-7B876DCF-6BC8-4B42-8CEA-63AEC9063AC8Q39336441-0B100713-6A49-44D5-A466-C2AABE40DF1AQ41871172-F5559A60-0983-4649-8FBA-6D5B34271316Q42290136-AAC02C7A-679D-41CA-9F01-B67480243337Q52888338-2BDB07D2-AC7E-4ECC-B0FF-DBEB9918CD01Q55364748-43F2039D-0003-47FD-B067-C10EEAB2FA08
P2860
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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name
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@en
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@nl
type
label
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@en
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@nl
prefLabel
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@en
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@nl
P2093
P356
P1476
Inverted duplication of 1q32.1 ...... of distal 1q partial trisomy.
@en
P2093
Dave Bunyan
John C K Barber
Morag N Collinson
Nicki Foulds
Shuwen Huang
Viv K Maloney
P304
P356
10.1002/AJMG.A.32463
P407
P577
2009-02-01T00:00:00Z