The human Y chromosome: a sole survivor Noordam, MJ - UvA-DARE
... palindrome P3 and we categorized these deletions into four distinct classes which we termed P3a, P3b, P3c and P3d. The P3a and P3b deletion were found in single instances, while the P3c and P3d deletion were both found in three unrelated men. The P3c and P3d deleted chromosomes both occurred specifi ...
... palindrome P3 and we categorized these deletions into four distinct classes which we termed P3a, P3b, P3c and P3d. The P3a and P3b deletion were found in single instances, while the P3c and P3d deletion were both found in three unrelated men. The P3c and P3d deleted chromosomes both occurred specifi ...
Ventricular Precontracting Area in the Wolff- Parkinson
... http://www.lww.com/reprints Subscriptions: Information about subscribing to Circulation is online at: http://circ.ahajournals.org//subscriptions/ ...
... http://www.lww.com/reprints Subscriptions: Information about subscribing to Circulation is online at: http://circ.ahajournals.org//subscriptions/ ...
00_Pg garda_q.cdr
... blocks the other left cardiac structures development. In the same time, the SVMM is thought to be responsible for the poor prognosis (512). The general prognosis is also influenced by the presence of other defects. Incomplete forms have a better prognosis, being described also in adult (13). Shone’s ...
... blocks the other left cardiac structures development. In the same time, the SVMM is thought to be responsible for the poor prognosis (512). The general prognosis is also influenced by the presence of other defects. Incomplete forms have a better prognosis, being described also in adult (13). Shone’s ...
16 (2), 2013 85-90 DOUBLE ANEUPLOIDY 48,XXY,+21
... The occurrence of double aneuploidy of DS combined with KS is unclear, not to mention the double aneuploidy associated with CHD. Approximately 65 cases of double aneuploidy of XXY and trisomy 21 have been published since 1959, and there are only eight cases associated with CHD [1214], including our ...
... The occurrence of double aneuploidy of DS combined with KS is unclear, not to mention the double aneuploidy associated with CHD. Approximately 65 cases of double aneuploidy of XXY and trisomy 21 have been published since 1959, and there are only eight cases associated with CHD [1214], including our ...
Sick Sinus Syndrome
... therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology/ American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). J Am Coll Car ...
... therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology/ American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). J Am Coll Car ...
Uniparental Disomy (UPD)
... into 23 pairs.1 Normally, one chromosome of each pair is inherited from the mother and one from the father. Uniparental disomy (UPD) is an atypical inheritance pattern in which both members of a single pair of chromosomes are inherited from one parent.2 UPD is commonly initiated when chromosomes fai ...
... into 23 pairs.1 Normally, one chromosome of each pair is inherited from the mother and one from the father. Uniparental disomy (UPD) is an atypical inheritance pattern in which both members of a single pair of chromosomes are inherited from one parent.2 UPD is commonly initiated when chromosomes fai ...
Interphase chromosome profiling (ICP)
... of Pathology, 2Department of Obstetrics and Gynecology, UT Southwestern Medical Center, Dallas, TX; 3IntenGen, LLC, Orlando, FL ...
... of Pathology, 2Department of Obstetrics and Gynecology, UT Southwestern Medical Center, Dallas, TX; 3IntenGen, LLC, Orlando, FL ...
genetic testing for Marfan syndrome
... does not have an altered copy to pass to his or her children. About 25 percent of people with Marfan syndrome do not have an affected parent. They are the first person in their family who has Marfan syndrome. This change in the gene is called a spontaneous mutation, and it almost always occurs during ...
... does not have an altered copy to pass to his or her children. About 25 percent of people with Marfan syndrome do not have an affected parent. They are the first person in their family who has Marfan syndrome. This change in the gene is called a spontaneous mutation, and it almost always occurs during ...
12-Lead EKG Interpretation - Oregon Society of Physician Assistants
... • Infer electrolyte imbalances • Infer hypertrophy of any chamber • Infer COPD, pericarditis, drug effects, and more! ...
... • Infer electrolyte imbalances • Infer hypertrophy of any chamber • Infer COPD, pericarditis, drug effects, and more! ...
KAT6A Syndrome - Rarechromo.org
... children with KAT6A syndrome have developed useful verbal language, this should be encouraged, but this takes time and using alternative methods can ensure they are able to communicate their needs in the short term. ...
... children with KAT6A syndrome have developed useful verbal language, this should be encouraged, but this takes time and using alternative methods can ensure they are able to communicate their needs in the short term. ...
KAT6A Syndrome - Rarechromo.org
... children with KAT6A syndrome have developed useful verbal language, this should be encouraged, but this takes time and using alternative methods can ensure they are able to communicate their needs in the short term. ...
... children with KAT6A syndrome have developed useful verbal language, this should be encouraged, but this takes time and using alternative methods can ensure they are able to communicate their needs in the short term. ...
Novel genetic aspects of Klinefelter`s syndrome
... For Permissions, please email: [email protected] ...
... For Permissions, please email: [email protected] ...
Cancer Prone Disease Section Noonan syndrome Atlas of Genetics and Cytogenetics
... Noonan syndrome is an autosomal dominant disorder. Rare cases with parental consanguinity have been described, but it is not clear that these represent true instances of autosomal recessive inheritance. Like many autosomal dominant disorders, a significant, but not precisely determined, percentage o ...
... Noonan syndrome is an autosomal dominant disorder. Rare cases with parental consanguinity have been described, but it is not clear that these represent true instances of autosomal recessive inheritance. Like many autosomal dominant disorders, a significant, but not precisely determined, percentage o ...
Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE and Warren ST: Mosaic FMR1 Deletion Causes Fragile X Syndrome and Can Lead to Molecular Misdiagnosis: A Case Report and Review of the Literature. American J of Medical Genetics Part A 146A:1358-1367 (2008).
... Female with mental retardation with a 10 Mb deletion at Xq27.1q27.3 Female with Hunter syndrome with a 3–5 cM deletion encompassing FMR1 and IDS genes (as well as FMR2) Male with typical features of fragile X syndrome carrying a deletion removing FMR1 and 2.5 Mb of flanking sequences. Deletion proba ...
... Female with mental retardation with a 10 Mb deletion at Xq27.1q27.3 Female with Hunter syndrome with a 3–5 cM deletion encompassing FMR1 and IDS genes (as well as FMR2) Male with typical features of fragile X syndrome carrying a deletion removing FMR1 and 2.5 Mb of flanking sequences. Deletion proba ...
Chromosomal Abnormalities
... 1. What is the significance of using a coin in this exercise? (It represents a 50% chance.) 2. Give one example to illustrate the difference between genotype and phenotype. What other factor(s) will affect phenotypic expression? (Answers will vary.) 3. Give an example to illustrate the difference in ...
... 1. What is the significance of using a coin in this exercise? (It represents a 50% chance.) 2. Give one example to illustrate the difference between genotype and phenotype. What other factor(s) will affect phenotypic expression? (Answers will vary.) 3. Give an example to illustrate the difference in ...
Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms
... connective tissue metabolism. Genetically related TAA accounts for approximately 5% of TAA.1 Some of the genetic syndromes associated with TAA have more aggressive rates of aortic expansion and are more likely to require intervention compared with sporadic TAA. MFS is the most common inherited form ...
... connective tissue metabolism. Genetically related TAA accounts for approximately 5% of TAA.1 Some of the genetic syndromes associated with TAA have more aggressive rates of aortic expansion and are more likely to require intervention compared with sporadic TAA. MFS is the most common inherited form ...
Analysis of GNAZ Gene Polymorphism in Bipolar Affective Disorder
... quency in patients with BPD resulting in an ultra ultra rapid cycling pattern [Papolos et al., 1998; Kirov et al., 1998]. However, COMT does not appear to exert a ‘‘major gene effect’’ in the pathogenesis of BPD [Gutierrez et al., 1997; Lachman et al., 1997b]. The findings in VCFS prompted our analy ...
... quency in patients with BPD resulting in an ultra ultra rapid cycling pattern [Papolos et al., 1998; Kirov et al., 1998]. However, COMT does not appear to exert a ‘‘major gene effect’’ in the pathogenesis of BPD [Gutierrez et al., 1997; Lachman et al., 1997b]. The findings in VCFS prompted our analy ...
The murine homologue of HIRA, a DiGeorge
... recently published by Lorain et al. (38). Below we will use their numbering of the exons. Clone 12B contains a 203 bp insert between exons 3 and 4, which encode part of the first and second WD40 domain respectively (sequence in Fig. 7A). Genomically, the insert is continuous with exon 3 but is separ ...
... recently published by Lorain et al. (38). Below we will use their numbering of the exons. Clone 12B contains a 203 bp insert between exons 3 and 4, which encode part of the first and second WD40 domain respectively (sequence in Fig. 7A). Genomically, the insert is continuous with exon 3 but is separ ...
- Wiley Online Library
... It is possible that an oligogenic combination of missing/ duplicated genes in our patient underlies his periventricular nodular heterotopia. Finally, it is possible that our patient’s disease is caused by other unknown mutations, unrelated to his chromosomal abnormalities, which we have not seen bec ...
... It is possible that an oligogenic combination of missing/ duplicated genes in our patient underlies his periventricular nodular heterotopia. Finally, it is possible that our patient’s disease is caused by other unknown mutations, unrelated to his chromosomal abnormalities, which we have not seen bec ...
Pacemaker Syndrome and Pacemaker Complications
... Failure to output: no pacing spike is present despite an indication to pace. This may be due to battery failure, lead fracture, a break in lead insulation, oversensing (inhibiting pacer output), poor lead connection at the take off from the pacer, and 'cross-talk' (ie a phenomenon seen when atrial o ...
... Failure to output: no pacing spike is present despite an indication to pace. This may be due to battery failure, lead fracture, a break in lead insulation, oversensing (inhibiting pacer output), poor lead connection at the take off from the pacer, and 'cross-talk' (ie a phenomenon seen when atrial o ...
Fibrillin microfibrils: Connective tissue pathways that regulate shape
... Fibrillins are large modular extracellular matrix proteins that form the backbone structure of "microfibrils." Fibrillin microfibrils are ubiquitous in the connective tissue space. The importance of fibrillin microfibrils to specific connective tissues is demonstrated by the phenotypic features of t ...
... Fibrillins are large modular extracellular matrix proteins that form the backbone structure of "microfibrils." Fibrillin microfibrils are ubiquitous in the connective tissue space. The importance of fibrillin microfibrils to specific connective tissues is demonstrated by the phenotypic features of t ...
Löffler`s Endocarditis: First Report of Successful Mitral and
... HES but who present with clinical stigmata of HES. Eosinophils tend to be polyclonal in these cases. Some experts have called for the elimination of the classification of idiopathic types of HES altogether, because causes can usually be found with extensive investigation; however, determining the un ...
... HES but who present with clinical stigmata of HES. Eosinophils tend to be polyclonal in these cases. Some experts have called for the elimination of the classification of idiopathic types of HES altogether, because causes can usually be found with extensive investigation; however, determining the un ...
Role for CCG-trinucleotide repeats in the pathogenesis of chronic
... disease occurring with each subsequent generation in an autosomal dominant manner.4 However, it is now known to occur in other disorders, including familial leukemias, cancers, and CLL.2,3,5,6 In patients with sporadic CLL, 11q deletions are a common chromosomal abnormality. This subset of patients ...
... disease occurring with each subsequent generation in an autosomal dominant manner.4 However, it is now known to occur in other disorders, including familial leukemias, cancers, and CLL.2,3,5,6 In patients with sporadic CLL, 11q deletions are a common chromosomal abnormality. This subset of patients ...
A founder mutation of the potassium channel KCNQ1 in long
... individual positive for either the G589D or Y171X mutation. Because of its relatively common occurrence, the G589D substitution was designated as the KCNQ1-Fin mutation. Functional expression of KCNQ1-Fin. When coexpressed with minK, the KCNQ1-Fin construct produced functional channels in COS cells, ...
... individual positive for either the G589D or Y171X mutation. Because of its relatively common occurrence, the G589D substitution was designated as the KCNQ1-Fin mutation. Functional expression of KCNQ1-Fin. When coexpressed with minK, the KCNQ1-Fin construct produced functional channels in COS cells, ...
Full Version - TS
... portray CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations (genetically closely related and expected to show an enrichment for shared predisposing factors for complex genetic conditions, such as TS). For this s ...
... portray CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations (genetically closely related and expected to show an enrichment for shared predisposing factors for complex genetic conditions, such as TS). For this s ...
DiGeorge syndrome
DiGeorge syndrome is also known as 22q11.2 deletion syndrome,DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF) or Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia. This syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name ""22q11.2 deletion syndrome (22q11.2DS)"" be used.22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.