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 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

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 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.

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q

2008 ◽  
Vol 48 (3) ◽  
pp. 151-155 ◽  
Author(s):  
Vijay Tonk ◽  
Herman E. Wyandt ◽  
Peter Osella ◽  
James Skare ◽  
Bai Lin Wu ◽  
...  
Keyword(s):  
Interstitial Deletion ◽  
Molecular Cytogenetic ◽  
Cytogenetic Studies
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