Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation

2003 ◽  
Vol 101 (2) ◽  
pp. 103-105 ◽  
Author(s):  
I. Bartels ◽  
G. Schlueter ◽  
T. Liehr ◽  
F. von Eggeling ◽  
H. Starke ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Placental Mosaicism ◽  
Chromosome Formation ◽  
Trisomy Rescue

A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9

1996 ◽  
Vol 16 (4) ◽  
pp. 371-374 ◽  
Author(s):  
TRACY A. WILKINSON ◽  
ROWENA S. JAMES ◽  
JOHN A. CROLLA ◽  
ANNETTE E. COCKWELL ◽  
PAUL L. CAMPBELL ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 9 ◽  
Maternal Uniparental Disomy ◽  
Trisomy 9 ◽  
Placental Mosaicism

Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy

2006 ◽  
Vol 48 (1) ◽  
pp. 97-99
Author(s):  
MIZUHO ICHIKAWA ◽  
MAKI OKAJIMA ◽  
TAKAHITO WADA ◽  
YUMI GOKAN ◽  
HIROMI SHIMAKAGE ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Syndrome Patient

Aneuploid Correction and Confined Placental Mosaicism

1996 ◽  
Vol 45 (1-2) ◽  
pp. 153-161
Author(s):  
G. Simoni ◽  
S. M. Sirchia ◽  
M. Fraccaro
Keyword(s):  
Uniparental Disomy ◽  
Mitotic Cell ◽  
Human Reproduction ◽  
Mutational Event ◽  
Chromosome Duplication ◽  
Abnormal Distribution ◽  
Chromosome Mutation ◽  
Abnormal Cells ◽  
Genetic Mechanisms ◽  
Placental Mosaicism

Uniparental disomy (UPD) can be caused by various genetic mechanisms such as gamete complementation, chromosome duplication in a monosomic zygote or postzygotic aneuploid correction. This latter mechanism has been recently well documented in human reproduction and seems to be strictly related to placental mosaicism. We have therefore studied some aspects of confined placental mosaicism (CPM) which are useful to clarify one of the most common sources of UPD in humans.Abnormal distribution of chromosomes in postzygotic mitotic cell divisions may result in a mosaic condition with two or more cell lines showing different chromosome constitutions. The effects on fetal phenotype and pregnancy development depend on the chromosomes involved, the distribution of the abnormal cells among tissues and on the precise stage at which chromosome mutation occurs.As shown in Fig. 1, when the mutational event occurs in the blastocyst, prior to the differentiation of embryonic and chorionic compartments, the mosaicism is found in both the placental and fetal tissues. In contrast, when the chromosome mutation occurs at a later stage, after embryonic and chorionic compartment separation, the abnormal cells may be confined to the placenta or to the embryo, and are not necessarily found in both.

Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14

2020 ◽  
pp. 1-7
Author(s):  
Voula Velissariou ◽  
Francis Sachinidi ◽  
Stavroula Christopoulou ◽  
Lina Florentin ◽  
Thomas Liehr ◽  
...  
Keyword(s):  
Cell Lines ◽  
De Novo ◽  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Chorionic Villus ◽  
Copy Number Variations ◽  
Oligonucleotide Array ◽  
Chorionic Villus Sampling ◽  
Chromosome 14 ◽  
Different Tissues

Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient’s peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells. Furthermore, a small supernumerary marker chromosome (sSMC) had been detected in the first trimester of pregnancy in chorionic villus sampling. A skin biopsy in the patient revealed the presence of a metacentric sSMC in 100% of cells. Cytogenetic and FISH studies showed that it was a de novo metacentric bisatellited sSMC derived from chromosomes 14 or 22. Oligonucleotide array-CGH using skin cells revealed no copy number variations. Studies for uniparental disomy 14 by microsatellite analysis confirmed biparental inheritance. To the best of our knowledge, this is the second report of a patient with 2 abnormal cell lines involving chromosome 14 in different tissues, one with mosaic T14 in the form of i(14)(q10) and one with an sSMC derived from chromosome 14, present in blood and skin, respectively. A rare mechanism of trisomy rescue events is proposed to explain the presence of the different cell lines in the tissues examined. This case highlights the importance of providing the cytogenetics laboratory with adequate clinical data to test for low mosaicism and analyse different tissues if necessary, thus contributing to the suitable clinical management of the patient.

scholarly journals Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age

2015 ◽  
Vol 8 ◽  
pp. CCRep.S31958 ◽  
Author(s):  
Bruna C. S. Melo ◽  
Ana Portocarrero ◽  
Cláudia Alves ◽  
André Sampaio ◽  
Luisa Mota-Vieira
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Advanced Maternal Age ◽  
Chromosome 15 ◽  
Clinical Effects ◽  
Abnormal Karyotype ◽  
The Family ◽  
Fetal Karyotype

The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age. A 39-year-old woman underwent amniocentesis at 16 weeks of gestation. A fetal abnormal karyotype − 47,XX,+mar − with one sSMC was detected in all metaphases. Since this sSMC was critical in the parental decision to continue or interrupt this pregnancy, we proceeded to study the fetus and their parents. Cytogenetic and molecular analyses revealed a fetal karyotype 47,XX,+mar pat.ish idic(15)(ql2)(D15Zl++,SNRPN−-), in which the sSMC(15) was a paternally inherited inverted duplicated chromosome and did not contain the critical region of Prader–Willi/Angelman syndromes. Moreover, fetal uniparental disomy was excluded. Based on this information and normal obstetric ultrasounds, the parents decided to proceed with the pregnancy and a phenotypically normal girl was born at 39 weeks of gestation. In conclusion, the clinical effects of sSMCs need to be investigated, especially when sSMCs are encountered at prenatal diagnosis. Here, although the paternal sSMC(15) was not associated with an abnormal phenotype, its characterization allows more accurate genetic counseling for the family progeny.

Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism

1995 ◽  
Vol 15 (9) ◽  
pp. 843-848 ◽  
Author(s):  
Carrie Jones ◽  
Carol Booth ◽  
Debra Rita ◽  
Lydia Jazmines ◽  
Rhonda Spiro ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 10 ◽  
Maternal Uniparental Disomy ◽  
Placental Mosaicism
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