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"Chromosomal disorders"

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https://www.readbyqxmd.com/read/28611373/is-there-any-clinical-relevant-difference-between-non-mosaic-klinefelter-syndrome-patients-with-or-without-androgen-receptor-variations
#1
Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28532528/hepatic-calcifications-in-fetal-population-studied-by-autopsies-in-bogota-colombia
#2
M Olaya-C, S Aldana-M, M Maya-G, F Gil
Fetal hepatic calcifications can be caused by infections, chromosomal disorders, thrombotic events, ischemic hepatic necrosis and subcapsular hematomas among others events. Its features and clinical significance are still not well known. We performed an observational study to describe fetal hepatic calcifications and its association with main clinical and histopathological findings from the fetal autopsy database, between 2007 and 2014. Raw odds ratio analysis was performed. We reviewed 591 fetal autopsies: 14 cases with hepatic calcifications, 102 fetuses with chromosomal disorders; 13 with diagnosis of TORSCH (toxoplasma, rubella, syphilis, cytomegalovirus, herpes virus 1 and 2, and others) and 207 with any abnormality in the umbilical cord (UC)...
May 23, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28523408/genetics-and-epigenetics-of-varicocele-pathophysiology-an-overview
#3
REVIEW
Viviane Paiva Santana, Cristiana Libardi Miranda-Furtado, Flavia Gaona de Oliveira-Gennaro, Rosana Maria Dos Reis
Varicocele is found in approximately 20% of adults and adolescents and in 19-41% of men seeking treatment for infertility. It is associated with a decrease in sperm count as well as sperm motility and morphology. The currently accepted description of the pathophysiology of varicocele does not explain all its clinical manifestations; therefore, other factors such as genetic and epigenetic changes, associated with the environment, might be involved in causing infertility and decrease in sperm quality. It has been reported that the varicocele-induced deterioration of testicular function is progressive and interferes with fertility; hence, early and efficient assessment of the genetic manifestations in patients would be important for developing future medical interventions...
May 18, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28480529/acne-conglobata-in-a-long-term-survivor-with-trisomy-13-accompanied-by-selective-igm-deficiency
#4
Chiyoko N Inoue, Yoshiko Tanaka, Nobuko Tabata
Trisomy 13 (T13) is a congenital chromosomal disorder that is usually fatal within 2 years of birth, and only a few patients have been reported to reach adolescence. Here, we report a male long-term survivor of T13, currently 15 years of age, with a several-year history of extensive acne conglobata (AC) with abscesses on the face and neck. Methicillin-resistant Staphylococcus aureus was consistently isolated from the pustular lesions. Serum IgM levels were extremely low at 10 mg/dl. There were no abnormalities in neutrophil and total B cell number, or in serum IgA and IgG levels...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28465723/a-case-with-concurrent-duplication-triplication-and-uniparental-isodisomy-at-1q42-12-qter-supporting-microhomology-mediated-break-induced-replication-model-for-replicative-rearrangements
#5
Tomohiro Kohmoto, Nana Okamoto, Takuya Naruto, Chie Murata, Yuya Ouchi, Naoko Fujita, Hidehito Inagaki, Shigeko Satomura, Nobuhiko Okamoto, Masako Saito, Kiyoshi Masuda, Hiroki Kurahashi, Issei Imoto
BACKGROUND: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28459185/karyomapping-and-how-is-it-improving-preimplantation-genetics
#6
Rebecca L Gould, Darren K Griffin
Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different. Areas covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28399932/guideline-recommendations-for-diagnosis-and-clinical-management-of-ring14-syndrome-first-report-of-an-ad-hoc-task-force
#7
REVIEW
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28384960/mullerian-agenesis-associated-with-turner-s-syndrome
#8
Padmanabhan Elamparidhi, Rudrappa Ramesh Kumar, Selvakkalanjiyam Sivaranjinie, Rajakumar Sibhithran
Turner's syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner's syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner's syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner's syndrome is a very rare entity. The incidence of Turner's syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#9
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#10
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28277555/frequency-and-causes-of-hypotonia-in-neonatal-period-with-the-gestational-age-of-more-than-36-weeks-in-nicu-of-mofid-children-hospital-tehran-iran-during-2012-2014
#11
Nosratollah Seyed Shahabi, Hossain Fakhraee, Mohammad Kazemian, Abolfazl Afjeh, Minoo Fallahi, Maryam Shariati, Fatemeh Gorji
OBJECTIVE: Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. MATERIALS & METHODS: This cross -sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28241016/rapid-and-simultaneous-detection-of-common-aneuploidies-by-quadruplex-real-time-polymerase-chain-reaction-combined-with-melting-curve-analysis
#12
Jiwu Lou, Manna Sun, Ying Zhao, Zhisong Ji, Fenghua Liu, Dongzhi Li, Wanfang Xu, Yangyang Lin, Yanhui Liu
BACKGROUND: During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies. METHODS: This method is based on co-amplification of segmental duplications located on two different chromosomes using a single pair of primers...
2017: PloS One
https://www.readbyqxmd.com/read/28211970/brain-hemorrhages-in-jacobsen-syndrome-a-retrospective-review-of-six-cases-and-clinical-recommendations
#13
Paul Grossfeld
Jacobsen syndrome is a rare chromosomal disorder caused by distal deletions in the long arm of chromosome 11. All patients with Jacobsen syndrome have Paris-Trousseau syndrome, a bleeding disorder that causes neonatal thrombocytopenia, and persistent platelet dysfunction. Despite that, to date there are no reported cases of hemorrhagic strokes occurring in patients with Jacobsen syndrome. In the last 6 years at least six cases of brain hemorrhages in patients with Jacobsen syndrome have occurred. In this report, we perform a retrospective review of these six cases...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28118519/oral-rehabilitation-with-implant-retained-overdenture-in-a-patient-with-down-syndrome
#14
Nuray Yilmaz Altintas, Serdar Kilic, Subutay Han Altintas
Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period...
January 24, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28101777/comorbidities-in-down-syndrome-livebirths-and-health-care-intervention-an-initial-experience-from-the-birth-defects-registry-in-southern-thailand
#15
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in Southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in Southern Thailand, were regularly followed-up every 3-6 months...
April 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27966762/case-report-low-level-trisomy-14-mosaicism-in-a-male-newborn-with-ectrodactyly
#16
M A Rodrigues, L F Morgade, L F A Dias, R V Moreira, P D Maia, A F H Sales, P D Ribeiro
Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35...
December 2, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27931917/co-occurrence-of-marfan-syndrome-and-bipolar-disorder-a-fifteen-year-follow-up
#17
Vijendra Nath Jha, Manoj Kumar, Jatin Tarwani
INTRODUCTION: Marfan syndrome, a chromosomal disorder, has been commonly associated with schizophrenia but no association with Bipolar affective disorder has been reported in the scientific literature. CASE REPORT: This case depicts the occurrence of Bipolar affective disorder in a previously undiagnosed case of Marfan syndrome. DISCUSSION: In this case patient had all manic episodes without any depressive or schizophrenia-like episodes, suggesting a diagnostic stability over a long period of over fifteen years...
December 2016: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#18
REVIEW
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27920999/frequency-of-y-chromosome-microdeletions-among-iranian-infertile-men-with-azoospermia-and-severe-oligozoospermia-a-meta-analysis
#19
Ehsan Yousefi-Razin, Mohammad Javad Nasiri, Mir Davood Omrani
BACKGROUND: While multiple factors can contribute to male infertility, genetic factors, such as chromosomal disorders or Y-chromosome microdeletion, are responsible for about 10% of male infertility. Considering the role of Y-chromosome micro-deletions in men with oligozoospermia who volunteer for in vitro fertilization (IVF), the prevalence of such microdeletions in each particular community needs to be exactly determined. Hence, the present study attempted to analyze the available literature on the frequency of chromosome microdeletion among Iranian infertile men...
October 2016: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/27878784/a-population-based-study-of-prevalence-of-down-syndrome-in-southern-thailand
#20
Somchit Jaruratanasirikul, Ounjai Kor-Anantakul, Montira Chowvichian, Wannee Limpitikul, Pathikan Dissaneevate, Nitthakarn Intharasangkanawin, Atchara Sattapanyo, Sermsri Pathompanitrat, H Sriplung
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder that causes mental retardation. In 2009, a population-based birth defects study was implemented in three provinces in southern Thailand. This study aimed to determine the prevalence of DS in the studied regions, and the proportion of DS fetuses detected by prenatal screening. METHODS: Data were obtained from a population-based surveillance study undertaken during 2009-2013. Entries in the birth defects registry included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following prenatal diagnosis...
February 2017: World Journal of Pediatrics: WJP
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