A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.

Item
http://www.wikidata.org/entity/Q41074063
Genomic disorders on 22q11A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndromeMultiplex-FISH for pre- and postnatal diagnostic applications.Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.Development of mammalian artificial chromosomes for the treatment of genetic diseases: Sandhoff and Krabbe diseases.Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report.De novo formed satellite DNA-based mammalian artificial chromosomes and their possible applications.Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report.A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation
P2860

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.

Item
http://www.wikidata.org/entity/Q41074063
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh
1997年學術文章
@zh-hant
name
A molecular and FISH approach ...... merary marker(22) chromosomes.
@en
type
label
A molecular and FISH approach ...... merary marker(22) chromosomes.
@en
prefLabel
A molecular and FISH approach ...... merary marker(22) chromosomes.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
A molecular and FISH approach ...... merary marker(22) chromosomes.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R
P433
P478
P577
P698
P921