scholarly journals Molecular cytogenetic studies of a male carrier with a unique (Y;14) translocation: Case report

2020 ◽  
Author(s):  
Shuang Chen ◽  
Qi Xi ◽  
Xinyue Zhang ◽  
Yuting Jiang ◽  
Leilei Li ◽  
...  
Keyword(s):  
Case Report ◽  
Molecular Cytogenetic ◽  
Cytogenetic Studies ◽  
Male Carrier

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies

2017 ◽  
Vol 152 (1) ◽  
pp. 33-37
Author(s):  
Roberto R. Capela de Matos ◽  
Daniela R. Ney Garcia ◽  
Elaine Cifoni ◽  
Moneeb A.K. Othman ◽  
Mariana Tavares de Souza ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
High Resolution ◽  
Myeloid Leukemia ◽  
Molecular Cytogenetic ◽  
Severe Diarrhea ◽  
Molecular Abnormalities ◽  
Cytogenetic Studies ◽  
Novel Complex ◽  
Ploidy Changes ◽  
Acute Myeloid

Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases. Here, we describe a 7- month-old girl with a history of fever and severe diarrhea, and a physical examination remarkable for pallor and hepatosplenomegaly. A novel complex hyperdiploid karyotype 53,XX,+X,+6,t(9;11)(p21.3;q23.3),+der(9)t(9;11)(p21.3;q23.3),dup(13)(q31q34),+14,+19,+21,+22 was characterized by high-resolution molecular cytogenetic approaches. Fluorescence in situ hybridization, multiplex-FISH, and multicolor chromosome banding were applied, revealing 2 reverse MLLT3-KMT2A fusions and a duplication of the GAS6 oncogene. Our work suggests that molecular cytogenetic studies are crucial for the planning of a proper strategy for risk therapy in AML infants with hyperdiploid karyotypes.

scholarly journals Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

2017 ◽  
Vol 16 (3) ◽  
pp. 3433-3438 ◽  
Author(s):  
Yuting Jiang ◽  
Ruixue Wang ◽  
Linlin Li ◽  
Lintao Xue ◽  
Shu Deng ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo ◽  
Cytogenetic Study ◽  
Molecular Cytogenetic ◽  
Mosaic Karyotype

Cytogenetic studies on a patient with prepubertal breast cancer: A case report

1996 ◽  
Vol 39 (3) ◽  
pp. 343-347
Author(s):  
Binaifer R. Balsara ◽  
Thomas Varughese ◽  
Arvind V. Bhat ◽  
Raja S. Rao ◽  
Avinash N. Bhisey
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Cytogenetic Studies

scholarly journals Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families

2015 ◽  
Vol 9 (3) ◽  
pp. 823-828
Author(s):  
LINHUAN HUANG ◽  
YINGJUN XIE ◽  
YI ZHOU ◽  
YANMIN LUO ◽  
XUAN HUANG ◽  
...  
Keyword(s):  
22Q11.2 Deletion ◽  
Molecular Cytogenetic ◽  
Cytogenetic Studies

scholarly journals Extra Copies of der(21)t(12;21) plus Deletion ofETV6Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Marina Araújo Fonzar Hernandes ◽  
Terezinha de Jesus Marques-Salles ◽  
Hasmik Mkrtchyan ◽  
Eliane Maria Soares-Ventura ◽  
Edinalva Pereira Leite ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
B Cell ◽  
Lymphoblastic Leukemia ◽  
Good Prognosis ◽  
Chromosome 21 ◽  
Cell Precursor ◽  
Childhood All ◽  
Molecular Cytogenetic ◽  
Cytogenetic Studies ◽  
Chromosome 12P

Acute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than 24 months and have been related to good prognosis. Some relapse cases and unfavorable prognosis in ALL CD10+ are associated with t(12;21) bearing additional aberrations as extra copies of chromosome 21 andETV6gene loss. This report describes the case of a 15 month-year old girl, who displayed a karyotype with addition on chromosome 12p plus trisomy 10 and tetrasomy of chromosome 21. Molecular cytogenetic studies revealed two extra copies of the der(21) t(12;21), trisomy 10 and deletion of the secondETV6gene due to the dic(12;18). These findings show the great importance of molecular cytogenetic studies to clarify complex karyotypes, to define prognostic, to carry out risk group stratification and to support correctly disease treatment in childhood acute lymphoblastic leukemia.

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