Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families

1999 ◽  
Vol 158 (11) ◽  
pp. 902-905 ◽  
Author(s):  
J. Wang ◽  
L. Spitz ◽  
R. Hayward ◽  
E. Kiely ◽  
C. M. Hall ◽  
...  
Keyword(s):  
Terminal Deletion ◽  
Chromosome 7Q

Prenatal diagnosis ofde novo terminal deletion of chromosome 7q

2003 ◽  
Vol 23 (5) ◽  
pp. 375-379 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chin-Yuan Tzen ◽  
Chen-Chi Lee ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Terminal Deletion ◽  
Chromosome 7Q

OHDO SYNDROME IN A BOY WITH TERMINAL DELETION OF 4q AND DUPLICATION OF 10q

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
SP Toelle ◽  
D Bartholdi ◽  
M Riegel ◽  
A Schinzel ◽  
E Boltshauser
Keyword(s):  
Terminal Deletion

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Multiple signaling pathways induced by granulocyte colony-stimulating factor involving activation of JAKs, STAT5, and/or STAT3 are required for regulation of three distinct classes of immediate early genes

Blood ◽  
1996 ◽  
Vol 88 (12) ◽  
pp. 4435-4444 ◽  
Author(s):  
SS Tian ◽  
P Tapley ◽  
C Sincich ◽  
RB Stein ◽  
J Rosen ◽  
...  
Keyword(s):  
Immediate Early Genes ◽  
Signaling Molecules ◽  
Immediate Early ◽  
Terminal Deletion ◽  
Deletion Mutants ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Multiple Signaling ◽  
Stimulating Factor ◽  
Dependent Pathway

Granulocyte colony-stimulating factor (G-CSF) is the major regulator of proliferation and differentiation of neutrophilic granulocyte precursor cells. G-CSF activates multiple signaling molecules, including the JAK1 and JAK2 kinases and the STAT transcription factors. To investigate G-CSF signaling events regulated by the JAK-STAT pathway, we have generated UT7-epo cells stably expressing either wild-type (wt) G-CSF receptor or a series of C-terminal deletion mutants. Gel mobility shift and immunoprecipitation/Western analysis showed that STAT5 is rapidly activated by G-CSF in cells expressing the wt G-CSF receptor, in addition to the previously reported STAT3 and STAT1. Mutants lacking any tyrosine residues in the cytoplasmic domain maintain their ability to activate STAT5 and STAT1 but cannot activate STAT3, implying that STAT5 and STAT1 activation does not require receptor tyrosine phosphorylation. We also observed significant changes in the ratio of STAT1:STAT3:STAT5 activated by various G-CSF receptor C-terminal deletion mutants. These mutant receptors were further used to investigate the role of JAKs and STATs in G-CSF-mediated responses in these cells. We found that JAK activation correlates with G-CSF-induced cell proliferation, whereas STAT activation is not required. We have also identified three classes of G-CSF immediate early genes, whose activation correlates with the activation of distinct JAK-STAT pathways. Our data show that, whereas c-fos is regulated through a pathway independent of STAT activation, oncostatin M, IRF-1, and egr-1 are regulated by an STAT5-dependent pathway and fibrinogen is regulated by an STAT3-dependent pathway. In conclusion, our results suggest that G-CSF regulates its complex biologic activities by selectively activating distinct early response genes through different JAK-STAT signaling molecules.

An 11q terminal deletion and tetralogy of Fallot

2007 ◽  
Vol 143A (10) ◽  
pp. 1126-1128 ◽  
Author(s):  
John Podraza ◽  
Jonathan Fleenor ◽  
Paul Grossfeld
Keyword(s):  
Tetralogy Of Fallot ◽  
Terminal Deletion
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