Insertional translocations: report of two new families and review of the literature.
about
A de novo insertion, detected prenatally, with normal phenotype.Two sibs with unbalanced translocations in the Waardenburg gene region.Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins.Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
P2860
Q33594054-A81BB3FB-3631-4A6C-A1B3-6D50456D473BQ33595601-842CE8BF-E43C-4075-A2AB-6408F35727C8Q33597189-E91C8C66-D817-4C7B-BC8F-3DE68F7D4C16Q34176385-103E5828-8756-4FAE-A337-869383937D08Q34729624-6B66FB82-A0F6-48CF-A506-76131AC16A41Q38505070-9BCC7CB8-4D96-4F96-9577-1954CD4FF29BQ41341364-B3313A88-D50F-4F91-A544-A98B025AA1ACQ54354533-508C9AA4-E8CD-4F70-8BD5-CBF55F873D70
P2860
Insertional translocations: report of two new families and review of the literature.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
1988年學術文章
@zh
1988年學術文章
@zh-hant
name
Insertional translocations: report of two new families and review of the literature.
@en
Insertional translocations: report of two new families and review of the literature.
@nl
type
label
Insertional translocations: report of two new families and review of the literature.
@en
Insertional translocations: report of two new families and review of the literature.
@nl
prefLabel
Insertional translocations: report of two new families and review of the literature.
@en
Insertional translocations: report of two new families and review of the literature.
@nl
P2093
P356
P1476
Insertional translocations: report of two new families and review of the literature.
@en
P2093
Barsel-Bowers G
Richardson A
P304
P356
10.1002/AJMG.1320310209
P577
1988-10-01T00:00:00Z