Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
about
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyMeiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restrictionTrisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generationsStudies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaWhole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?
P2860
Q24633194-04F5DD53-0590-4911-98B3-6886018ADBBEQ24680385-83C4E646-A01C-4E92-BE0F-FD30B854EA3EQ33680550-5BEB2ACF-77BF-49E7-93DF-096E7482DA56Q33681527-F148FFB5-4852-4075-A4AD-6D631F75DC1BQ34325126-1F3A8F3F-CAE7-4EE6-8811-011ACB783E85Q35249537-51CCBCAC-9BB0-48F3-B96B-56A56FB72F11Q37718486-F3FB3605-5561-418C-86D7-C1C89B44FCA7Q43105049-5B572F06-A36C-4E50-A82F-F6DA68F58BDA
P2860
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@ast
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@en
type
label
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@ast
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@en
prefLabel
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@ast
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@en
P2093
P2860
P1476
Normal phenotype with maternal ...... sochromosomes: i(2p) and i(2q)
@en
P2093
Bernasconi F
Karagüzel A
Schinzel AA
P2860
P304
P407
P577
1996-11-01T00:00:00Z