New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

2005 ◽  
Vol 138A (4) ◽  
pp. 365-368 ◽  
Author(s):  
M. García-Hoyos ◽  
R. Sanz ◽  
D. Diego-Álvarez ◽  
I. Lorda-Sánchez ◽  
M.J. Trujillo-Tiebas ◽  
...  
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
New Approach ◽  
Chromosome Breakpoint

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

2005 ◽  
Vol 136A (2) ◽  
pp. 190-193 ◽  
Author(s):  
Alberto Hidalgo-Bravo ◽  
Ericka N. Pompa-Mera ◽  
Susana Kofman-Alfaro ◽  
Cesar R. Gonzalez-Bonilla ◽  
Juan Carlos Zenteno
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Filamin A ◽  
Skewed X Chromosome Inactivation

scholarly journals Periodontal Surgery Intervention for Gingival Smile Correction - Case Report

2020 ◽  
Vol 14 (1) ◽  
pp. 27-34
Author(s):  
Beatriz S. Sangalette ◽  
Larissa V. Vieira ◽  
Felippo R. Verri ◽  
Leandro R. Mestrener ◽  
Sandra R. Mestrener ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Surgical Techniques ◽  
Healing Time ◽  
Private Clinic ◽  
Periodontal Surgery ◽  
New Approach ◽  
Initial Surgery ◽  
High Degree ◽  
The Relationship

Introduction: The success of anterior rehabilitation requires more skills than knowledge. It is necessary that the professional has updates on a new approach to obtain the best result considering the high degree of the exigency of these cases. The relationship between red and white esthetic is known and consolidated in the literature. Then, to achieve success in an esthetic smile is indispensable to apply periodontal surgery associated with restorative technique. Methods: In this report, a 28-year-old female patient sought care in a private clinic with a major cosmetic complaint due to disproportion of the clinical crown and gingival smile. Result: After planning, a clinical crown increase was performed, followed by the labial repositioning technique after the healing time of the initial surgery. Conclusion: It can be concluded that some of the surgical techniques, demonstrated in the literature, for gingival correction are feasible when correctly indicated. The best esthetic results will be achieved when the professional can understand the necessity to correct the disharmony of white and red esthetic.

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation

2015 ◽  
Vol 62 (7) ◽  
pp. 1288-1290 ◽  
Author(s):  
Jennifer R. Holle ◽  
Rebecca A. Marsh ◽  
Anna Maria Holdcroft ◽  
Stella M. Davies ◽  
Lijun Wang ◽  
...  
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
Hemophagocytic Lymphohistiocytosis ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Teva Brender ◽  
Donna Wallerstein ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
Medical Literature ◽  
Proteolipid Protein ◽  
X Chromosome Inactivation ◽  
Unusual Presentation ◽  
Chromosome Inactivation ◽  
Myelin Protein ◽  
Pelizaeus Merzbacher Disease ◽  
Skewed X Chromosome Inactivation

Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.

scholarly journals Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia

Blood ◽  
1982 ◽  
Vol 59 (1) ◽  
pp. 100-105 ◽  
Author(s):  
GW Dewald ◽  
RV Pierre ◽  
RL Phyliky
Keyword(s):  
X Chromosome ◽  
Structural Rearrangement ◽  
Chromosome Abnormalities ◽  
Chromosome Band ◽  
Sideroblastic Anemia ◽  
X Chromosomes ◽  
Structural Abnormalities ◽  
History Of ◽  
The Common ◽  
Chromosome Breakpoint

Abstract Structural abnormalities of the X chromosome are rarely found in neoplastic disorders. We describe three patients with a history of idiopathic acquired sideroblastic anemia (IASA); each one had an abnormal clone of cells in the bone marrow, characterized by a structurally abnormal X chromosome. In two of these patients, the predominant karyotype was 47,X,2idic(X)(q13); in the other patient, it was 46,X,t(X;11)(q13;p15). Inasmuch as all three of these cases involved chromosome band Xq13, as did two previously published cases, we suggest that band Xq13 may be more prone to structural rearrangement than other X chromosome bands in hematologic disorders. The common Xq13 chromosome breakpoint and clinical presentation (IASA) among these three patients and the occurrence of an X-linked type of sideroblastic anemia may suggest that an association exists between X chromosome abnormalities and IASA. Perhaps alteration of a gene or chromosome structure in or near band Xq13 predisposes to development of IASA. The fact that two of these patients had preleukemia and the third had overt acute leukemia may imply that patients with IASA and X chromosome abnormalities have a poor prognosis. Cases of IASA without associated X chromosome abnormalities are known; thus, if an association between IASA and an abnormal X chromosome does exist, most likely it involves only some patients with IASA.

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