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https://www.readbyqxmd.com/read/27966762/case-report-low-level-trisomy-14-mosaicism-in-a-male-newborn-with-ectrodactyly
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/27816230/type-of-chromosome-abnormality-affects-embryo-morphology-dynamics
#6
Maria Del Carmen Nogales, Fernando Bronet, Natalia Basile, Eva María Martínez, Alberto Liñán, Lorena Rodrigo, Marcos Meseguer
OBJECTIVE: To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. DESIGN: Retrospective cohort study. SETTING: University affiliated private center. PATIENT(S): Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27813593/case-report-case-study-of-a-patient-presenting-both-type-ii-bipolar-affective-disorder-and-klinefelter-syndrome
#7
H Delavenne, J M Khoury, F Thibaut, F D Garcia
Klinefelter syndrome (KS) is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500-1000. Increased incidences of anxiety, depression, substance abuse, psychotic and behavioral disorders, and sexual disorders have been reported in patients with KS. The aim of this case study was to report a case of a man with untreated KS who was also diagnosed with type II bipolar disorder. This case report raises awareness regarding psychiatric diagnoses that may be associated with such a highly prevalent condition...
October 17, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27801982/risk-factors-for-pulmonary-arterial-hypertension-in-children-and-young-adults
#8
Estelle Naumburg, Lars Söderström, Daniel Huber, Inge Axelsson
OBJECTIVES: Pulmonary hypertension (PH) has been linked to preterm birth explained by congenital heart defects and pulmonary diseases. WORKING HYPOTHESIS: Other factors may influence the risk of PH among adolescences and children born premature. STUDY DESIGN: This national registry-based study assess risk of PH following premature birth adjusted for known risk factors. PATIENT-SUBJECT SELECTION AND METHODOLOGY: All cases born 1993-2010, identified by diagnostic codes applicable to PH and retrieved from the Swedish Registry of Congenital Heart Disease (N = 67)...
November 1, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27785401/a-case-with-emanuel-syndrome-extra-derivative-22-chromosome-inherited-from-the-mother
#9
E İkbal Atli, H Gürkan, Ü Vatansever, S Ulusal, H Tozkir
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11;22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27765586/a-case-of-chromosomal-disorders-of-sex-development-with-transverse-testicular-ectopia-mimicking-mixed-gonadal-dysgenesis
#10
Fumi Matsumoto, Futoshi Matsui, Koji Yazawa, Kenji Shimada
No abstract text is available yet for this article.
October 17, 2016: Urology
https://www.readbyqxmd.com/read/27718221/auditory-toxicity-in-late-preterm-and-term-neonates-with-severe-jaundice
#11
Sanjiv B Amin, Satish Saluja, Arvind Saili, Nirupama Laroia, Mark Orlando, Hongyue Wang, Asha Agarwal
AIM: Jaundice may cause auditory toxicity (auditory neuropathy and hearing loss). However, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. We compared TSB, bilirubin:albumin molar ratio (BAMR), and unbound bilirubin for their association with auditory toxicity in neonates with severe jaundice (TSB ≥342μmol/L, or that met exchange transfusion). METHOD: Neonates greater or equal to 34 weeks gestational age with severe jaundice during the first 2 postnatal weeks were eligible for prospective cohort study, unless they had craniofacial malformations, chromosomal disorders, toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex infections, surgery, or family history of congenital deafness...
October 8, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27641144/high-burden-of-genetic-conditions-diagnosed-in-a-cardiac-neurodevelopmental-clinic
#12
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27614170/ear-health-and-hearing-surveillance-in-girls-and-women-with-turner-s-syndrome-recommendations-from-the-turner-s-syndrome-support-society
#13
Haytham Kubba, Arlene Smyth, Sze Choong Wong, Avril Mason
BACKGROUND: Turner's syndrome (TS) is a common chromosomal disorder, affecting 1 in 2000 newborn girls, in which part or all of one X chromosome is missing. Ear and hearing problems are very common in girls and women with TS. The aim of this review was to review the published literature in order to suggest recommendations for otological health surveillance. METHOD: A keyword search of Ovid Medline was performed for published literature on the subject and evidence rated according to the GRADE criteria...
September 10, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27514138/-possibilities-and-limitations-analysis-of-screening-in-pregnant-women-for-down-syndrome-and-other-common-chromosomal-disorders-over-a-period-of-two-years
#14
Hachmerian M, Angelova L, Ivanov St, Kovachev E
Maternal biochemical screening and the new non-invasive prenatal screening tests as well as prenatal diagnostic tests as tools to fight serious chromosomal diseases have their possibilities and limitations. The article presents analysis of the results in 7 201 pregnant women: 4426 first trimester and 2775 second trimester biochemical screening, together with 994 calculated integrated risks performed in the Laboratory of medical genetics in 2013 and 2014 year. A matter of mass screening in both periods is the criterion of efficiency--financially justified reasons on the basis of comparison "sensitivity" of different approaches...
2016: Akusherstvo i Ginekologii︠a︡
https://www.readbyqxmd.com/read/27504263/wolf-hirschhorn-4p-syndrome-with-west-syndrome
#15
Hirotaka Motoi, Tohru Okanishi, Sotaro Kanai, Takuya Yokota, Tomohiro Yamazoe, Mitsuyo Nishimura, Ayataka Fujimoto, Takamichi Yamamoto, Hideo Enoki
Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27412247/klinefelter-syndrome-and-fertility-sperm-preservation-should-not-be-offered-to-children-with-klinefelter-syndrome
#16
REVIEW
S Franik, Y Hoeijmakers, K D'Hauwers, D D M Braat, W L M Nelen, D Smeets, H L Claahsen-van der Grinten, L Ramos, K Fleischer
STUDY QUESTION: Should fertility preservation be offered to children with Klinefelter syndrome (KS)? SUMMARY ANSWER: Current evidence shows that fertility preservation should not be offered to adolescents with KS younger than 16 years because of lower retrieval rates for germ cells by testicular sperm extraction (TESE) compared with retrieval rates for adolescents and adults between 16 and 30 years. WHAT IS KNOWN ALREADY: KS, the most common chromosomal disorder in men leading to non-obstructive azoospermia, is caused by the presence of at least one additional X chromosome...
September 2016: Human Reproduction
https://www.readbyqxmd.com/read/27295197/the-effect-of-s-adenosylmethionine-on-self-mutilation-in-a-patient-with-lesch-nyhan-disease
#17
Matthias Lauber, Barbara Plecko, Miriam Pfiffner, Jean-Marc Nuoffer, Johannes Häberle
BACKGROUND: Lesch-Nyhan disease (LND) is an X-chromosomal disorder of purine metabolism characterized by hyperuricemia, dystonia, and self-mutilation, leading to an extremely high burden of disease in affected patients and families. Although allopurinol therapy can control hyperuricemia, it has no effect on self-mutilation and neurological symptoms. Single reports describe a beneficial effect of S-adenosylmethionine (SAM) on the neurological symptoms, which motivated us to evaluate this alternative treatment...
June 14, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27275928/a-critical-evaluation-of-the-down-syndrome-diagnosis-for-lb1-type-specimen-of-homo-floresiensis
#18
Karen L Baab, Peter Brown, Dean Falk, Joan T Richtsmeier, Charles F Hildebolt, Kirk Smith, William Jungers
The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial skeleton LB1 as the type specimen. The Liang Bua hominins are notable for their short stature, small endocranial volume, and many features that appear phylogenetically primitive relative to modern humans, despite their late Pleistocene age. Recently, some workers suggested that the remains represent members of a small-bodied island population of modern Austro-Melanesian humans, with LB1 exhibiting clinical signs of Down syndrome...
2016: PloS One
https://www.readbyqxmd.com/read/27245732/delay-and-poor-diagnosis-of-down-syndrome-in-kwazulu-natal-south-africa-a-retrospective-review-of-postnatal-cytogenetic-testing
#19
Mark Willoughby, Colleen Aldous, Mark Patrick, Shelagh Kavonic, Arnold Christianson
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA, and difficulty in diagnosing it, appear to persist. OBJECTIVES: To establish an epidemiological profile of DS and investigate the ability of clinicians in KwaZulu-Natal Province (KZN), SA, to make accurate clinical diagnoses of DS. METHODS: Records at the South African National Blood Service cytogenetic laboratory in Pinetown, KZN, were examined for all tests for clinically suspected DS undertaken during January 2009 - December 2013 and all cytogenetically proven DS test results...
June 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27217611/report-of-a-case-with-trisomy-9-mosaicism
#20
Mohammad Miryounesi, Mehdi Dianatpour, Zahra Shadmani, Soudeh Ghafouri-Fard
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment...
May 2016: Iranian Journal of Medical Sciences
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