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https://www.readbyqxmd.com/read/29441129/rare-partial-octosomy-and-hexasomy-of-15q11-q13-associated-with-intellectual-impairment-and-development-delay-report-of-two-cases-and-review-of-literature
#1
Haiyu Li, Juan Du, Wen Li, Dehua Cheng, Wenbin He, Duo Yi, Bo Xiong, Shimin Yuan, Chaofeng Tu, Lanlan Meng, Aixiang Luo, Ge Lin, Guangxiu Lu, Yue-Qiu Tan
Background: Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a rare chromosome disorder with distinctive clinical phenotypes, including early central hypotonia, developmental delay, epilepsy, and autistic behavior. It was previously shown that the partial tetrasomy 15q and partial hexasomy 15q syndromes are usually caused by one and two extra idic(15), respectively...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29439332/early-and-selective-activation-and-subsequent-alterations-to-the-unfolded-protein-response-in-down-syndrome-mouse-models
#2
Chiara Lanzillotta, Antonella Tramutola, Shelby Meier, Frederick Schmitt, Eugenio Barone, Marzia Perluigi, Fabio Di Domenico, Jose F Abisambra
Down syndrome (DS) is the most common chromosomal disorder and the leading genetic cause of intellectual disability in humans, which results from the triplication of chromosome 21. DS individuals have an increased risk of developing Alzheimer's disease (AD)-like pathology and dementia by the age of 40 due to the triplication of several genes involved in the formation of amyloid plaques and tau tangles. Further, DS and AD are characterized by the aberrant accumulation of unfolded/misfolded proteins resulting from over-burdened protein quality control systems...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29430158/delayed-presentation-of-turner-syndrome-challenge-to-optimal-management
#3
Uma Kaimal Saikia, Dipti Sarma, Yogesh Yadav
Background: Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center...
October 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29425059/prader-willi-syndrome-and-angelman-syndrome-visualisation-of-the-molecular-pathways-for-two-chromosomal-disorders
#4
Friederike Ehrhart, Kelly J M Janssen, Susan L Coort, Chris T Evelo, Leopold M G Curfs
OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism...
February 9, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29414555/specificity-of-electroclinical-features-in-the-diagnosis-of-ring-chromosome-20
#5
A B Gago-Veiga, R Toledano, I García-Morales, M A Pérez-Jiménez, J Bernar, A Gil-Nagel
BACKGROUND: Ring chromosome 20 (R20) syndrome is a chromosomal disorder characterized mainly by drug-resistant frontal lobe seizures, recurrent nonconvulsive status epilepticus (NCSE), and typical EEG features. The aim of this study was to investigate if this triad is common and specific to all patients with R20. METHODS: In this cross-sectional study (from 2000 to 2011), we selected patients who fulfilled at least two out of three criteria: drug-resistant frontal lobe seizures, recurrent NCSE, and characteristic electroencephalography (EEG) features...
February 2, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29403643/down-syndrome-and-micrornas
#6
Aldina Brás, António S Rodrigues, Bruno Gomes, José Rueff
In recent years numerous studies have indicated the importance of microRNAs (miRNA/miRs) in human pathology. Down syndrome (DS) is the most prevalent survivable chromosomal disorder and is attributed to trisomy 21 and the subsequent alteration of the dosage of genes located on this chromosome. A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR- 125b-2, let-7c and miR-99a. This overexpression may contribute to the neuropathology, congenital heart defects, leukemia and low rate of solid tumor development observed in patients with DS...
January 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29382506/klinefelter-syndrome-more-than-hypogonadism
#7
REVIEW
George A Kanakis, Eberhard Nieschlag
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and >70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing...
January 27, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29354594/surgical-correction-of-grade-iii-hypertelorism
#8
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#9
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#10
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29320756/generation-of-an-induced-pluripotent-stem-cell-line-from-an-adult-male-with-45-x-46-xy-mosaicism
#11
Yumei Luo, Detu Zhu, Xiangye Xu, Lingxia Ge, Xiaofang Sun, Guokai Chen, Yaoyong Chen
Turner syndrome (TS) with 45,X/46,XY mosaic karyotype is a rare sex chromosome disorder with an occurrence of 0.15‰ at birth. We report the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese adult male with 45,X/46,XY mosaicism. The iPSC line retains the original 45,X/46,XY mosaic karyotype, expresses pluripotency markers and undergoes trilineage differentiation. Therefore, it offers an unprecedented cellular model to investigate the profound symptoms like infertility of TS in the male, and serve as a useful tool to develop therapies for the disease...
January 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29318577/uk-families-with-children-with-rare-chromosome-disorders-changing-experiences-of-diagnosis-and-counseling-2003-to-2013
#12
A Szczepura, S Wynn, B Searle, A J Khan, T Palmer, D Biggerstaff, J Elliott, M A Hultén
The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of two large-scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a ten year period. Seven stages of the patient journey were examined. From pre-testing, through diagnosis, genetics consultation, clinical follow-up and peer support...
January 10, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29275412/hypertensive-cerebral-hemorrhage-in-a-patient-with-turner-syndrome-caused-by-deletion-in-the-short-arm-of-the-x-chromosome
#13
Yusuke S Hori, Takahiro Ohkura, Yuki Ebisudani, Michiari Umakoshi, Masato Ishi, Kazunori Oda, Mizuho Aoi, Takushi Inoue, Mahoko Furujo, Hiroyuki Tanaka, Toru Fukuhara
Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented...
December 23, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29220612/coexistence-of-trisomy-13-and-sry-xx-ovotesticular-disorder-of-sex-development
#14
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29193652/decisions-about-aneuploidy-screening-why-women-s-reasons-are-important
#15
Dafina Petrova, Rocio Garcia-Retamero
Several tests exist that can help detect Down syndrome and other chromosomal disorders during the first weeks of pregnancy. Non-invasive prenatal testing (NIPT) is gaining popularity because of its improved accuracy over traditional screening methods and its improved safety compared to invasive tests that carry some risk of miscarriage. In a recent study conducted in Hong Kong, Cheng et al. recruited women at high or intermediate risk of Down syndrome according to their 1st or 2nd trimester screening. This article is protected by copyright...
November 28, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29193639/oligonephronia-and-wolf-hirschhorn-syndrome-a-further-observation
#16
Antonio Gatto, Pietro Ferrara, Chiara Leoni, Roberta Onesimo, Marcella Zollino, Francesco Emma, Giuseppe Zampino
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m2 , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal range. Urine collection showed protein 2.72 g/L with a urine protein/creatinine ratio (UP /UCr ratio) of 4.2 and diuresis of 1,100 ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids...
November 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29186436/transcriptome-profiling-of-fetal-klinefelter-testis-tissue-reveals-a-possible-involvement-of-long-non-coding-rnas-in-gonocyte-maturation
#17
Sofia B Winge, Marlene D Dalgaard, Jacob M Jensen, Niels Graem, Mikkel H Schierup, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
In humans, the most common sex chromosomal disorder is Klinefelter syndrome (KS), caused by the presence of one or more extra X-chromosomes. KS patients display a varying adult phenotype but usually present with azoospermia due to testicular degeneration, which accelerates at puberty. The timing of the germ cell loss and whether it is caused by dysgenetic fetal development of the testes is not known.We investigated 8 fetal KS testes and found a marked reduction in MAGE-A4-positive pre-spermatogonia compared to testes from 15 age-matched controls, indicating a failure of the gonocytes to differentiate into pre-spermatogonia...
November 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29174080/patterns-of-care-at-the-end-of-life-for-children-and-young-adults-with-life-threatening-complex-chronic-conditions
#18
Danielle D DeCourcey, Melanie Silverman, Adeolu Oladunjoye, Emily M Balkin, Joanne Wolfe
OBJECTIVE: To characterize patterns of care at the end of life for children and young adults with life-threatening complex chronic conditions (LT-CCCs) and to compare them by LT-CCC type. STUDY DESIGN: Cross-sectional survey of bereaved parents (n = 114; response rate of 54%) of children with noncancer, noncardiac LT-CCCs who received care at a quaternary care children's hospital and medical record abstraction. RESULTS: The majority of children with LT-CCCs died in the hospital (62...
November 21, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29128491/screening-for-fetal-chromosomal-and-subchromosomal-disorders
#19
REVIEW
Sarah Harris, Dallas Reed, Neeta L Vora
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders...
November 8, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29107344/faithful-artificial-chromosome-propagation-using-spermatogonial-stem-cells
#20
M Yamada, M Seandel
Artificial chromosomes are useful in making functional vectors for very large genes, studying chromosome physiology, and modeling chromosomal disorders. Shinohara et al. have succeeded for the first time in creating transchromosomic mice by manipulating spermatogonial stem cells (SSCs), which exhibited superior chromosomal stability compared with embryonic stem cells (ESCs).
October 26, 2017: Trends in Genetics: TIG
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