scholarly journals Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Monika Schlegel, Alessandra Baumer, Mariluce Riegel, Ute Wiedemann and Albert Schnizel.Prenatal Diagnosis22(5): 418-421

2002 ◽  
Vol 22 (11) ◽  
pp. 1056-1056
Keyword(s):  
Marker Chromosome ◽  
Paternal Chromosome ◽  
Chromosome 10 ◽  
Additional Marker ◽  
Uniparental Isodisomy

Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus

2002 ◽  
Vol 22 (5) ◽  
pp. 418-421 ◽  
Author(s):  
Monika Schlegel ◽  
Alessandra Baumer ◽  
Mariluce Riegel ◽  
Ute Wiedemann ◽  
Albert Schinzel
Keyword(s):  
Marker Chromosome ◽  
Paternal Chromosome ◽  
Chromosome 10 ◽  
Additional Marker ◽  
Uniparental Isodisomy

scholarly journals Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

2013 ◽  
Vol 110 (4) ◽  
pp. 493-494 ◽  
Author(s):  
Célia Nogueira ◽  
Jorge Sales Marques ◽  
Claudia Nesti ◽  
Luisa Azevedo ◽  
Martina Di Lullo ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Chromosome 10 ◽  
Mitochondrial Dna Depletion ◽  
Uniparental Isodisomy ◽  
Mitochondrial Dna Depletion Syndrome

Forty four probands with an additional ?marker? chromosome

1985 ◽  
Vol 69 (4) ◽  
pp. 353-370 ◽  
Author(s):  
K. E. Buckton ◽  
G. Spowart ◽  
M. S. Newton ◽  
H. J. Evans
Keyword(s):  
Marker Chromosome ◽  
Additional Marker

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

2007 ◽  
Vol 143A (18) ◽  
pp. 2165-2171 ◽  
Author(s):  
Joerg Mattes ◽  
Bruce Whitehead ◽  
Thomas Liehr ◽  
Ian Wilkinson ◽  
John Bear ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Chromosome 14 ◽  
Uniparental Isodisomy

scholarly journals Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing

Biomedicines ◽  
2021 ◽  
Vol 9 (8) ◽  
pp. 1030
Author(s):  
Igor N. Lebedev ◽  
Tatyana V. Karamysheva ◽  
Eugeny A. Elisaphenko ◽  
Alexey I. Makunin ◽  
Daria I. Zhigalina ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Genetic Counselling ◽  
Marker Chromosome ◽  
Clinical Manifestations ◽  
Pericentromeric Region ◽  
Ring Structure ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Chromosome 10

Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic analyses by array-based comparative genomic hybridization (aCGH), sSMC microdissection with next-generation sequencing (NGS) of microdissected library, fluorescence in situ hybridization (FISH) with locus-specific and telomere-specific DNA probes and quantitative real-time PCR revealed that sSMC(10) had a ring structure and was derived from the pericentromeric region of chromosome 10 with involvement of the 10p11.21-p11.1 and 10q11.21-q11.23 at 1.243 Mb and 7.173 Mb in size, respectively. We observed a difference in the length of sSMC(10) between NGS data of the DNA library derived from a single copy of sSMC(10), and aCGH results that may indicate instability and structural mosaicism for ring chromosomes in foetal cells. The presence of a 9 Mb euchromatin region in the analysed sSMC(10) did not lead to clinical manifestations, and a healthy girl was born at term. We suggest that the ring structure of sSMCs could influence sSMC manifestations and should be taken into account in genetic counselling during prenatal diagnosis.

scholarly journals The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype

2015 ◽  
Vol 61 (6) ◽  
pp. 398-402
Author(s):  
Rosa Santacroce ◽  
Roberta Trunzo ◽  
Angelica Leccese ◽  
Angela Pansini ◽  
Mattia Gentile ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Adult Woman ◽  
Chromosome 10 ◽  
Normal Phenotype ◽  
Small Supernumerary Marker Chromosome ◽  
First Case

Additional Marker Chromosome 15

2009 ◽  
pp. 32-32
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Chromosome 15 ◽  
Additional Marker

scholarly journals Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

2016 ◽  
Vol 11 (6) ◽  
pp. 2247-2253 ◽  
Author(s):  
NIU LI ◽  
YU DING ◽  
TINGTING YU ◽  
JUAN LI ◽  
YONGNIAN SHEN ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chromosome 10 ◽  
Whole Exome ◽  
Uniparental Isodisomy ◽  
Causal Variants

Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype

2009 ◽  
Vol 149A (12) ◽  
pp. 2768-2774 ◽  
Author(s):  
Pi-Lin Sung ◽  
Sheng-Ping Chang ◽  
Kuo-Chang Wen ◽  
Chia-Ming Chang ◽  
Ming-Jie Yang ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Chromosome 10 ◽  
Normal Phenotype ◽  
Small Supernumerary Marker Chromosome

scholarly journals A Case Report of Solitary Fibrous Tumor in the Axilla of a 4-year-old Girl with Additional Marker Chromosome

2015 ◽  
Vol 22 (2) ◽  
pp. 171-175
Author(s):  
Ji Hye Park ◽  
Eun Jeong Kim ◽  
O Kyu Noh ◽  
Hyun Ju Jung ◽  
Jun Eun Park
Keyword(s):  
Case Report ◽  
Solitary Fibrous Tumor ◽  
Marker Chromosome ◽  
Additional Marker ◽  
Fibrous Tumor
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