A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13

1985 ◽  
Vol 71 (3) ◽  
pp. 263-266 ◽  
Author(s):  
I. Kondo ◽  
K. Shin ◽  
S. Honmura ◽  
H. Nakajima ◽  
E. Yamamura ◽  
...  
Keyword(s):  
Case Report ◽  
Human Chromosome ◽  
Chromosome 13 ◽  
New Gene ◽  
Chromosome 13Q ◽  
13Q Deletion

scholarly journals Chromosome 13q deletion syndrome involving 13q31-qter: A case report

2017 ◽  
Vol 15 (6) ◽  
pp. 3658-3664 ◽  
Author(s):  
Yue-Ping Wang ◽  
Da-Jia Wang ◽  
Zhi-Bin Niu ◽  
Wan-Ting Cui
Keyword(s):  
Case Report ◽  
Deletion Syndrome ◽  
Chromosome 13Q ◽  
13Q Deletion

scholarly journals Deficiency of coagulation factor Vll in a 4 years old child with 13q deletion syndrome: a case report

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Housam AL Madani ◽  
Soltan Hassan ◽  
Ghada Ajwa ◽  
Basel Dahlawi
Keyword(s):  
Case Report ◽  
Coagulation Factor ◽  
Coagulation Factors ◽  
Factor Vii ◽  
Deletion Syndrome ◽  
Bleeding Disorders ◽  
Chromosome 13 ◽  
Factor Vii Deficiency ◽  
13Q Deletion ◽  
Congenital Factor

Background: Factor VII deficiency is rare inherited bleeding disorders, have been identified in the Factor VII gene located on chromosome 13 with very few cases reported. Factor VII deficiency was first described by Alexander et al. in 1951.The disorder has also been known as Alexander's disease. It is the rare inherited bleeding disorders’ with an estimated incidence of 1 case per 3,00,000 to 5,00,000 individuals. Objective and method: We did a case report and literature review for deficiency of coagulation factors VII was found in a 4 years patient who had chromosomal aberration 13q deletion syndrome (46, XX, del 13q32-13q33). This loci involved in synthesis or constitution of factor VII. Results: A review of the gene map of chromosome 13 indicated that Factors VII and X are coded on the long arm of chromosome 13, within the deleted region. Conclusion: Congenital Factor VII deficiency is a rare cause of bleeding disorder, which should be suspected in a bleeding child presenting in infancy when platelets and aPTT are normal with abnormal PT. Congenital Factor VII deficiency association with 46, XX, del (13q32– 13q33) syndrome is very rare disorder and further cases should be reported to know the outcome and the risk of complication in such a cases.

Deficiency of coagulation factor Vll in a 4 years old child with 13q deletion syndrome: a case report

2021 ◽  
Vol 9 (1) ◽  
pp. 1-3
Author(s):  
Housam AL Madani ◽  
Soltan Hassan ◽  
Ghada Ajwa, ◽  
Basel Dahlawi
Keyword(s):  
Case Report ◽  
Coagulation Factor ◽  
Coagulation Factors ◽  
Factor Vii ◽  
Deletion Syndrome ◽  
Bleeding Disorders ◽  
Chromosome 13 ◽  
Factor Vii Deficiency ◽  
13Q Deletion ◽  
Congenital Factor

Background: Factor VII deficiency is rare inherited bleeding disorders, have been identified in the Factor VII gene located on chromosome 13 with very few cases reported. Factor VII deficiency was first described by Alexander et al. in 1951.The disorder has also been known as Alexander's disease. It is the rare inherited bleeding disorders’ with an estimated incidence of 1 case per 3,00,000 to 5,00,000 individuals. Objective and method: We did a case report and literature review for deficiency of coagulation factors VII was found in a 4 years patient who had chromosomal aberration 13q deletion syndrome (46, XX, del 13q32-13q33). This loci involved in synthesis or constitution of factor VII. Results: A review of the gene map of chromosome 13 indicated that Factors VII and X are coded on the long arm of chromosome 13, within the deleted region. Conclusion: Congenital Factor VII deficiency is a rare cause of bleeding disorder, which should be suspected in a bleeding child presenting in infancy when platelets and aPTT are normal with abnormal PT. Congenital Factor VII deficiency association with 46, XX, del (13q32– 13q33) syndrome is very rare disorder and further cases should be reported to know the outcome and the risk of complication in such a cases.

GENETIC MAPPING OF THE CRITICAL REGION FOR GENITAL AND ANORECTAL MALFORMATIONS ON HUMAN CHROMOSOME 13

2009 ◽  
Vol 181 (4S) ◽  
pp. 258-258
Author(s):  
Theodore D Barber ◽  
Nilda M Garcia ◽  
Mark Henkemeyer ◽  
Lane Santos ◽  
Oliver Bartsch ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Genetic Mapping ◽  
Critical Region ◽  
Anorectal Malformations ◽  
Chromosome 13

Genome Analysis of the AT Region of Human Chromosome 11 and Identification of a New Gene, NPAT, Physically Linked to the ATM Gene

1998 ◽  
pp. 135-144
Author(s):  
Takashi Imai ◽  
Masatake Yamauchi ◽  
Naohiko Seki ◽  
Takehiko Sugawara ◽  
Masashi Sagara ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Genome Analysis ◽  
Chromosome 11 ◽  
New Gene ◽  
Atm Gene

Assignment of inosine triphosphatasegene to gorilla chromosome 13 and to human chromosome 20 in primate-rodent somatic cell hybrids

1976 ◽  
Vol 16 (1-5) ◽  
pp. 420-421 ◽  
Author(s):  
Meera Khan ◽  
P.L. Pearson ◽  
L.L.L. Wijnen ◽  
B.A. Doppert ◽  
A. Westerveld ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Somatic Cell ◽  
Somatic Cell Hybrids ◽  
Chromosome 13 ◽  
Cell Hybrids ◽  
Chromosome 20 ◽  
I Gene ◽  
Inosine Triphosphatase

Molecular Classification of Multiple Myeloma: A Distinct Transcriptional Profile Characterizes Patients Expressing CCND1 and Negative for 14q32 Translocations

2005 ◽  
Vol 23 (29) ◽  
pp. 7296-7306 ◽  
Author(s):  
Luca Agnelli ◽  
Silvio Bicciato ◽  
Michela Mattioli ◽  
Sonia Fabris ◽  
Daniela Intini ◽  
...  
Keyword(s):  
Gene Expression ◽  
Multiple Myeloma ◽  
Expression Profiles ◽  
Quantitative Polymerase Chain Reaction ◽  
Gene Expression Pattern ◽  
Marker Genes ◽  
Published Data ◽  
Cyclin D ◽  
Chromosome 13Q ◽  
13Q Deletion

Purpose The deregulation of CCND1, CCND2 and CCND3 genes represents a common event in multiple myeloma (MM). A recently proposed classification grouped MM patients into five classes on the basis of their cyclin D expression profiles and the presence of the main translocations involving the immunoglobulin heavy chain locus (IGH) at 14q32. In this study, we provide a molecular characterization of the identified translocations/cyclins (TC) groups. Materials and Methods The gene expression profiles of purified plasma cells from 50 MM cases were used to stratify the samples into the five TC classes and identify their transcriptional fingerprints. The cyclin D expression data were validated by means of real-time quantitative polymerase chain reaction analysis; fluorescence in situ hybridization was used to investigate the cyclin D loci arrangements, and to detect the main IGH translocations and the chromosome 13q deletion. Results Class-prediction analysis identified 112 probe sets as characterizing the TC1, TC2, TC4 and TC5 groups, whereas the TC3 samples showed heterogeneous phenotypes and no marker genes. The TC2 group, which showed extra copies of the CCND1 locus and no IGH translocations or the chromosome 13q deletion, was characterized by the overexpression of genes involved in protein biosynthesis at the translational level. A meta-analysis of published data sets validated the identified gene expression signatures. Conclusion Our data contribute to the understanding of the molecular and biologic features of distinct MM subtypes. The identification of a distinctive gene expression pattern in TC2 patients may improve risk stratification and indicate novel therapeutic targets.

An Integrated Map of Human Chromosome 13 Allowing Regional Localization of Genetic Markers

1995 ◽  
Vol 3 (3) ◽  
pp. 180-187 ◽  
Author(s):  
R. Frank Kooy ◽  
Albert Wijngaard ◽  
Edwin Verlind ◽  
Hans Scheffer ◽  
Charles Buys
Keyword(s):  
Human Chromosome ◽  
Genetic Markers ◽  
Regional Localization ◽  
Integrated Map ◽  
Chromosome 13

IL9 maps to mouse chromosome 13 and human chromosome 5

1990 ◽  
Vol 31 (4) ◽  
pp. 265-270 ◽  
Author(s):  
Beverly A. Mock ◽  
Marianne Krall ◽  
Christine A. Kozak ◽  
Muriel N. Nesbitt ◽  
O. Wesley McBride ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Chromosome 5 ◽  
Chromosome 13 ◽  
Human Chromosome 5
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