scholarly journals Exceptional Complex Chromosomal Rearrangements in Three Generations

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Hannie Kartapradja ◽  
Nanis Sacharina Marzuki ◽  
Mark D. Pertile ◽  
David Francis ◽  
Lita Putri Suciati ◽  
...  
Keyword(s):  
Chromosomal Rearrangements ◽  
Partial Trisomy ◽  
Structural Rearrangement ◽  
Derivative Chromosome ◽  
Chromosome 4 ◽  
Partial Monosomy ◽  
Three Generations ◽  
Complex Chromosomal Rearrangements ◽  
Whole Genome Microarray ◽  
Translocation Breakpoints

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

scholarly journals Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Mary A. Gudipati ◽  
Elizabeth Waters ◽  
Carol Greene ◽  
Nidhi Goel ◽  
Nicole L. Hoppman ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Chromosomal Rearrangements ◽  
Chromosome 1 ◽  
Derivative Chromosome ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Mate Pair ◽  
Complex Chromosomal Rearrangements ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

Abstract Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular events. The complexity of these rearrangements and the original descriptions in cancer cells initially led to the assumption that it was an acquired anomaly. While rare, these phenomena involving chromosome 1 have been reported a few individuals in a constitutional setting. Case presentation Here, we describe a newborn baby who was initially referred for cytogenetic testing for multiple congenital anomalies including cystic encephalomalacia, patent ductus arteriosus, inguinal hernia, and bilateral undescended testicles. Chromosome analysis was performed and revealed a derivative chromosome 1 with an 1q24-q31 segment inserted into 1q42.13 resulting in gain of 1q24-q31. Whole genome SNP microarray analysis showed a complex pattern of copy number variants with four gains and one loss involving 1q24-q31. Mate pair next-generation sequencing analysis revealed 18 chromosome breakpoints, six gains along an 1q24-q31 segment, one deletion of 1q31.3 segment and one deletion of 1q42.13 segment, which is strongly evocative of a chromoanasynthesis event for developing this complex rearrangement. Parental chromosome analyses were performed and showed the same derivative chromosome 1 in the mother. Conclusions To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex chromosome rearrangements.

scholarly journals Translocation, t(4q-;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

1974 ◽  
Vol 11 (2) ◽  
pp. 201-205 ◽  
Author(s):  
H. G. Schrott ◽  
S. Sakaguchi ◽  
U. Francke ◽  
L. Luzzatti ◽  
P. J. Fialkow
Keyword(s):  
Partial Trisomy ◽  
Fourth Generation ◽  
Chromosome 4 ◽  
Three Generations

scholarly journals Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Bani Bandana Ganguly ◽  
Vijay Kadam ◽  
Nitin N. Kadam
Keyword(s):  
Chromosomal Rearrangements ◽  
Phenotypic Expression ◽  
Partial Trisomy ◽  
Derivative Chromosome ◽  
Chromosome 6 ◽  
Clinical Expression ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Chromosomal Alteration

Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

scholarly journals Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

2020 ◽  
Vol 77 (7) ◽  
pp. 754-757
Author(s):  
Ivana Joksic ◽  
Thomas Liehr ◽  
Mina Toljic ◽  
Natasa Karadzov-Orlic ◽  
Zagorka Milovanovic ◽  
...  
Keyword(s):  
Umbilical Artery ◽  
Partial Trisomy ◽  
First Trimester ◽  
Derivative Chromosome ◽  
Chromosome 2 ◽  
Balanced Translocation ◽  
Single Umbilical Artery ◽  
Partial Monosomy ◽  
Cardiac Ventricle ◽  
Cytogenetic Analyses

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

scholarly journals Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)

2015 ◽  
Vol 146 (3) ◽  
pp. 222-229 ◽  
Author(s):  
Alessandra Iannuzzi ◽  
Viviana Genualdo ◽  
Angela Perucatti ◽  
Alfredo Pauciullo ◽  
Giovanna Varricchio ◽  
...  
Keyword(s):  
Chromosomal Aberration ◽  
Case Reports ◽  
Fatal Outcome ◽  
Partial Trisomy ◽  
Fish Analysis ◽  
Derivative Chromosome ◽  
Chromosome 11 ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Cytogenetic Investigation

A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.

scholarly journals A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24)

2021 ◽  
Author(s):  
Anjali Satyen Sabnis ◽  
Anurita S Pais ◽  
Gauri Pradhan
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Material ◽  
Partial Trisomy ◽  
Derivative Chromosome ◽  
Chromosome 6 ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Current Case ◽  
Long Time ◽  
Future Pregnancy

Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations. Translocation is one of the structural chromosomal aberrations where exchange of genetic material between the chromosomes is seen because of two breakpoints. On the basis of involvement of type of chromosome, two different types of translocation are defined. A case of two-year-old girl child with the history of developmental delay, generalised hypotonia and recurrent infections was reported whose cytogenetic analysis showed additional genetic material on ‘p’ arm of one chromosome 6. To find out the additional genetic material, parental chromosomal study was done which revealed balanced translocation between ‘q’ arm of chromosome 10 and ‘p’ arm of chromosome 6 and normal chromosomal pattern in father. Balanced translocation in mother gave rise to formation of derivative chromosome 6 which was transmitted to daughter causing partial trisomy of 10q and partial monosomy of 6p. This gain and loss of genetic material could be the cause of phenotypic features. In the current case, karyotyping was an investigation of choice and offering genetic counselling regarding prenatal diagnosis in future pregnancy was a thoughtful step.

scholarly journals Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

2017 ◽  
Vol 06 (03) ◽  
pp. 165-168 ◽  
Author(s):  
Luis Mendez-Rosado ◽  
Araceli Lantigua ◽  
Juan Galarza ◽  
Ahmed Hamid Al-Rikabi ◽  
Monika Ziegler ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Partial Trisomy ◽  
Derivative Chromosome ◽  
Genomic Disorder ◽  
Charcot Marie Tooth Disease ◽  
Dysmorphic Features ◽  
Copy Numbers ◽  
Tooth Disease

AbstractGain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic disorder, that is, Charcot-Marie-Tooth disease type 1A and Potocki-Lupski syndrome. Parental studies indicated that the abnormality was de novo in origin. As the question how this rearrangement arose cannot be answered conclusively, formal genetic counseling is warranted, which includes a discussion regarding the possibility of gonadal mosaicism. In conclusion, this case highlights that chromosome 17p is genetically relatively instable, and thus it can lead to rare chromosomal conditions.

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