Combined spectral karyotyping, multicolor banding, and microarray comparative genomic hybridization analysis provides a detailed characterization of complex structural chromosomal rearrangements associated with gene amplification in the osteosarcoma cell line MG-63

2004 ◽  
Vol 153 (2) ◽  
pp. 158-164 ◽  
Author(s):  
Gloria Lim ◽  
Jana Karaskova ◽  
Bisera Vukovic ◽  
Jane Bayani ◽  
Ben Beheshti ◽  
...  
Keyword(s):  
Chromosomal Rearrangements ◽  
Comparative Genomic ◽  
Osteosarcoma Cell ◽  
Spectral Karyotyping ◽  
Comparative Genomic Hybridization Analysis ◽  
Detailed Characterization ◽  
Multicolor Banding ◽  
Complex Structural ◽  
Microarray Comparative Genomic Hybridization

Psychotic Manifestations in a Patient with Mental Retardation and a 6.2 Megabase Deletion at the Distal Short Arm of Chromosome 12

CNS Spectrums ◽  
2008 ◽  
Vol 13 (6) ◽  
pp. 515-519 ◽  
Author(s):  
Milen Velinov ◽  
Gail Beldia ◽  
Hong Gu ◽  
John A. Tsiouris ◽  
Edmund C. Jenkins ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Psychotic Disorders ◽  
Chromosome 12 ◽  
Psychotic Symptoms ◽  
Comparative Genomic ◽  
Comparative Genomic Hybridization Analysis ◽  
The Family ◽  
The Individual ◽  
Microarray Comparative Genomic Hybridization

ABSTRACTGenetic factors are known to contribute to the development of schizophrenia and related psychoses. Cytogenetic abnormalities have been occasionally found in patients with psychotic disorders and, thus, have helped identify candidate gene contributors for these conditions. The individual described here first presented with mental retardation and anxiety disorder in his mid-childhood. In his early 20s, the patient started exhibiting various psychotic manifestations, including delusions and hallucinations. His psychotic symptoms were difficult to control with psychotropic medications. The family history was negative for psychiatric disorders. This patient was found to have a 6.2 megabase deletion of the terminal portion of the short arm of chromosome 12 that was characterized using fluorescence in situ hybridization and microarray comparative genomic hybridization analysis. The maternal chromosomes were normal, but the paternal chromosomes could not be tested. To date such a chromosomal abnormality has not been described in association with schizophrenia/psychosis. This case suggests that psychosis-associated gene(s) may be located in the terminal region of the short arm of chromosome 12.

scholarly journals Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

2002 ◽  
Vol 101 (2) ◽  
pp. 137-145 ◽  
Author(s):  
Mireille Van Gele ◽  
J. Helen Leonard ◽  
Nadine Van Roy ◽  
Heidi Van Limbergen ◽  
Simon Van Belle ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Merkel Cell Carcinoma ◽  
Chromosomal Rearrangements ◽  
Fish Analysis ◽  
Merkel Cell ◽  
Detailed Characterization

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

2020 ◽  
Author(s):  
Hanan H. Afifi ◽  
Ghada Y. El-Kamah ◽  
Alaa K. Kamel ◽  
Sally G. Abd Allah ◽  
Sayda Hammad ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Ductus Arteriosus ◽  
Chromosomal Rearrangements ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Comparative Genomic ◽  
Septal Hypertrophy

AbstractPaternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith–Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We describe a 15-month-old girl presenting with protruding tongue, dysmorphic facial features, moderate developmental delay, umbilical hernia, hypotonia, mild-to-moderate pulmonary hypertension, small patent ductus arteriosus, and mild ventricular septal hypertrophy. Brain magnetic resonance imaging showed mild atrophic changes. Chromosomal analysis revealed 46, XX, add(18)(q23). Fluorescence in situ hybridization using subtelomere 18q and whole chromosome painting 18 showed subtelomere deletion in 18q, and the add segment was not derived from chromosome 18. Microarray-based comparative genomic hybridization detected a 22 Mb duplication of chromosome 11p15.5p14.3 and a 3.7 Mb deletion of chromosome 18q23. The phenotype of the chromosomal rearrangements is probably resulted from a combination of dosage-sensitive genes. Our patient had clinical manifestations of both 18q deletion and BWS.

scholarly journals Prenatal Diagnosis and Molecular Cytogenetic Characterization of an Unusual Complex Structural Rearrangement in a Pregnancy Following Intracytoplasmic Sperm Injection (ICSI)

2005 ◽  
Vol 53 (3) ◽  
pp. 351-354 ◽  
Author(s):  
M. Trimborn ◽  
T. Liehr ◽  
B. Belitz ◽  
L. Pfeiffer ◽  
R. Varon ◽  
...  
Keyword(s):  
Intracytoplasmic Sperm Injection ◽  
Organizer Region ◽  
Structural Rearrangement ◽  
Comparative Genomic ◽  
Molecular Cytogenetic ◽  
Structural Aberrations ◽  
Multicolor Banding ◽  
Cytogenetic Characterization ◽  
Cytogenetic Analyses ◽  
Complex Structural

We report on a balanced complex chromosomal aberration detected in a fetus after amniocentesis. The pregnancy was achieved after intracytoplasmic sperm injection. GTG-banding revealed a complex structurally rearranged karyotype with a translocation between chromosomes 5 and 15 and an additional paracentric inversion in the der(15) between bands 5q11.2 and 5q15. Ag-NOR staining showed an interstitial active nuclear organizer region in the der(15). Molecular cytogenetic analyses using whole-chromosome–painting probes, comparative genomic hybridization, and multicolor banding did not point to further structural aberrations or imbalances. Therefore, a complex rearrangement with three breakpoints has occurred, and the karyotype can be described as 46,XX,der(5)t(5;15)(q11.2;p12),der(15)t(5;15)(q11.2;p12)inv(5)(q11.2q15).

Sign in / Sign up

Export Citation Format

Share Document