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

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 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

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

RDW can be a useful additional marker in diagnosing Crohn's disease and ulcerative colitis

2008 ◽  
Vol 46 (05) ◽  
Author(s):  
Z Szepes ◽  
K Farkas ◽  
T Molnar ◽  
F Nagy ◽  
T Nyari ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Additional Marker

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Vincenzo Altieri ◽  
Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Molecular Characterization ◽  
Marker Chromosome

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome

2010 ◽  
Vol 152A (8) ◽  
pp. 2034-2038 ◽  
Author(s):  
Nicole L. Hoppman-Chaney ◽  
D. Brian Dawson ◽  
Lai Nguyen ◽  
Sunanda Sengupta ◽  
Kara Reynolds ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Critical Region ◽  
Marker Chromosome

scholarly journals Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1511
Author(s):  
Tatyana V. Karamysheva ◽  
Tatyana A. Gayner ◽  
Vladimir V. Muzyka ◽  
Konstantin E. Orishchenko ◽  
Nikolay B. Rubtsov
Keyword(s):  
Genetic Counseling ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Reproductive Function ◽  
Small Supernumerary Marker Chromosome ◽  
Comprehensive Chromosome Screening ◽  
The Family ◽  
Multicolor Banding ◽  
The One

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.

Sign in / Sign up

Export Citation Format

Share Document