Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

Item
http://www.wikidata.org/entity/Q41341364
De novo complete trisomy 5p: clinical report and FISH studies.Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy.Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.Modification of CMT1 Phenotypes by the Independent Coexisting Neurogenetic Disorders, McArdle Disease and Chromosome 5p Trisomy.Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family.A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
P2860

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

Item
http://www.wikidata.org/entity/Q41341364
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
@en
type
label
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
@en
prefLabel
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19970211)68:4<476::AID-AJMG21>3.0.CO;2-O
P433
P478
P577
P698