scholarly journals Partial duplication of tentorium cerebelli and complete duplication of falx cerebelli

2019 ◽  
Vol 52 (3) ◽  
pp. 337 ◽  
Author(s):  
Satheesha B. Nayak ◽  
Surekha D. Shetty
Keyword(s):  
Partial Duplication ◽  
Tentorium Cerebelli ◽  
Complete Duplication

scholarly journals Haptoglobin Duplicon, Hemoglobin, and Vitamin C: Analyses in the British Women’s Heart and Health Study and Caerphilly Prospective Study

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Philip A. I. Guthrie ◽  
Mohammad R. Abdollahi ◽  
Tom Gaunt ◽  
Debbie A. Lawlor ◽  
Yoav Ben-Shlomo ◽  
...  
Keyword(s):  
Vitamin C ◽  
Copy Number ◽  
Health Study ◽  
Free Hemoglobin ◽  
Pcr Assay ◽  
Partial Duplication ◽  
Haptoglobin Genotype ◽  
Haptoglobin Gene ◽  
Apparent Association ◽  
Quantitative Pcr Assay

Background. Haptoglobin acts as an antioxidant by limiting peroxidative tissue damage by free hemoglobin. The haptoglobin gene allele Hp2 comprises a 1.7 kb partial duplication. Relative to allele Hp1, Hp2 carriers form protein multimers, suboptimal for hemoglobin scavenging.Objective. To examine the association of haptoglobin genotype with a range of phenotypes, with emphasis on vitamin C and hemoglobin levels.Methods. We applied a quantitative PCR assay for the duplication junction to two population cohorts including 2747 British women and 1198 British men. We examined the association of haptoglobin duplicon copy number with hemoglobin and vitamin C and used the copy number to complete a phenome scan.Results.Hemoglobin concentrations were greater in those with Hp2,2 genotype, in women only (Hp1,1 13.45 g/dL, Hp1,2 13.49 g/dL, Hp2,2 13.61 g/dL;P=0.002), though statistically there was no evidence of a difference between the sexes (zvalue = 1.2,P=0.24). Haptoglobin genotype was not associated with vitamin C or any other phenotype in either cohort.Conclusions. Our results do not support association of haptoglobin genotype with vitamin C or with other phenotypes measured in two population cohorts. The apparent association between haptoglobin genotype and hemoglobin in the women’s cohort merits further investigation.

scholarly journals A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyan Jin ◽  
Zhiping Gu ◽  
Xiaohan Jiang ◽  
Pei Yu ◽  
Tianhui Xu
Keyword(s):  
Down Syndrome ◽  
Pregnant Woman ◽  
Prenatal Testing ◽  
Chromosome 21 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Serological Screening ◽  
Partial Duplication ◽  
Her Family ◽  
Clinical Consequences

Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

scholarly journals Fertility problems in males carrying an inversion of chromosome 10

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 316-321
Author(s):  
Xinyue Zhang ◽  
Qingyang Shi ◽  
Yanhong Liu ◽  
Yuting Jiang ◽  
Xiao Yang ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Pericentric Inversion ◽  
Paracentric Inversion ◽  
Chromosome 10 ◽  
Partial Duplication ◽  
Recurrent Miscarriages ◽  
First Case ◽  
Fertility Problems ◽  
Male Carriers ◽  
Male Carrier

Abstract Chromosomal inversion is closely related to male infertility. Inversion carriers may produce abnormal gametes, which may lead to partial duplication/deletion of the embryonic chromosome and result in spontaneous abortion, a fetus with multiple anomalies, or birth of a malformed child. Genetic counselling remains challenging for these carriers in clinical practice. We report two male carriers with inversion of chromosome 10 and review 26 reported cases. In the first case, 46,XX,inv(10)(p13q22) of the fetal chromosome was found in prenatal diagnosis; this was inherited from the paternal side with 46XY,inv(10)(p13q22). Another case was a male carrier with inv(10)(q21.2q22.1). There have been 25 (89.3%) cases of pericentric inversion and three (10.7%) cases of paracentric inversion involving chromosome 10. Of 28 cases, nine were associated with pregestational infertility of the couples, while the other 19 cases were associated with gestational infertility of the couples or normozoospermia. The breakpoints at 10p15, 10p11, 10q11, and 10q21 were associated with pregestational infertility of the couples. The breakpoints at 10p15, 10p14, 10p13, 10p12, 10p11, 10q11, 10q21, 10q22, 10q23, 10q24, 10q25, and 10q26 were related to gestational infertility of the couples or normozoospermia. Although there is a high risk of infertility or recurrent miscarriages, carriers with inversion of chromosome 10 might produce healthy offspring. Natural pregnancy can be used as a choice for inversion carriers with recurrent spontaneous abortion.

scholarly journals EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates

2008 ◽  
Vol 19 (2) ◽  
pp. 327-335 ◽  
Author(s):  
A. J. Vilella ◽  
J. Severin ◽  
A. Ureta-Vidal ◽  
L. Heng ◽  
R. Durbin ◽  
...  
Keyword(s):  
Phylogenetic Trees ◽  
Complete Duplication

Intradural chordoma of the tentorium cerebelli

1991 ◽  
Vol 74 (3) ◽  
pp. 508-511 ◽  
Author(s):  
Ronald E. Warnick ◽  
Jack Raisanen ◽  
Theodore Kaczmar ◽  
Richard L. Davis ◽  
Michael D. Prados
Keyword(s):  
Rare Case ◽  
Content Type ◽  
Tentorium Cerebelli ◽  
Fine Print

✓ A rare case of intradural chordoma is described. The literature contains seven examples of intradural extraosseous chordoma, all reported in a ventral location. This is the first reported case of a primary intradural chordoma distant from the clivus and involving both the supra- and infratentorial compartments.

46,XX sex reversal with partial duplication of chromosome arm 22q

2004 ◽  
Vol 127A (2) ◽  
pp. 149-151 ◽  
Author(s):  
Tossaporn Seeherunvong ◽  
Erasmo M. Perera ◽  
Yong Bao ◽  
Paul J. Benke ◽  
Adelaida Benigno ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Partial Duplication ◽  
Chromosome Arm

Nonmosaic partial duplication 12p

2014 ◽  
Vol 13 (2) ◽  
pp. 68-73 ◽  
Author(s):  
Maha M. Eid ◽  
Suzett I. Helal ◽  
Nagwa A. Meguid ◽  
Sayeda A. Hamad ◽  
Assaad Gerzawy ◽  
...  
Keyword(s):  
Partial Duplication

Factitious Hematuria With Underlying Renal Abnormalities

PEDIATRICS ◽  
1988 ◽  
Vol 82 (3) ◽  
pp. 377-379
Author(s):  
RICHARD F. SALMON ◽  
BILLY S. ARANT ◽  
MICHEL G. BAUM ◽  
RONALD J. HOGG
Keyword(s):  
Vesicoureteric Reflux ◽  
Term Pregnancy ◽  
Gross Hematuria ◽  
Persistent Symptoms ◽  
History Of ◽  
Appropriate Therapy ◽  
Complete Duplication ◽  
Renal Abnormalities ◽  
Recurrent Hematuria ◽  
Collecting System

Factitious hematuria is a well-described cause of hematuria in adult patients but is rarely seen or considered in children.1-6 In this article, a 5-year-old girl with a history of gross hematuria with more than one pathologic explanation for recurrent hematuria is described. Because of persistent symptoms despite appropriate therapy, a factitious cause was considered. CASE REPORT The patient was the healthy product of the uncomplicated full-term pregnancy of an unmarried woman who reared the child in the home of her mother and sister. The diagnosis of urinary tract infection was made first at 2 years of age. In subsequent radiographic studies, two normal kidneys were identified, with complete duplication of the left collecting system and bilateral grade 2 vesicoureteric reflux.

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