Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
about
An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection.Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.Small supernumerary marker chromosomes and uniparental disomy have a story to tellMolecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.The dilemma of diagnostic testing for Prader-Willi syndromeMultiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosisMolecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14
P2860
Q33215422-01339E5C-9B85-4B08-A492-E33B6A543150Q34267348-9FE688AD-B855-4B8A-A2DF-660D15E257DAQ35441030-AE30981D-8035-4D72-94C5-D762DB841A9EQ38462574-F2BA1413-1AED-40BD-B429-5F51D120EBE0Q38466436-E9AA7277-7D7B-4DEB-B5F5-2D4909741A28Q39121279-1FCD28A7-6CE7-4181-AB06-DA8336DBD7B3Q41815067-BCA68EB2-60E4-482C-B869-E0FC813B8DFBQ44292036-626635FA-6864-4DD1-A1CB-E10FFDB5A89EQ52562177-8092361B-A36F-49C4-A470-4CBAFA900531Q57557278-D818BB8C-0941-4E52-9C85-C4E3A75EA251
P2860
Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Supernumerary marker chromosom ...... ): coincidence or consequence?
@en
Supernumerary marker chromosomes
@nl
type
label
Supernumerary marker chromosom ...... ): coincidence or consequence?
@en
Supernumerary marker chromosomes
@nl
prefLabel
Supernumerary marker chromosom ...... ): coincidence or consequence?
@en
Supernumerary marker chromosomes
@nl
P356
P1476
Supernumerary marker chromosom ...... ): coincidence or consequence?
@en
P2093
P304
P356
10.1136/JMG.39.10.775
P407
P577
2002-10-01T00:00:00Z