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"Chromosomal disorders"

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
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
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
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
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
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
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
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
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
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
Thomas B Newman, Andrea C Wickremasinghe, Eileen M Walsh, Barbara A Grimes, Charles E McCulloch, Michael W Kuzniewicz
OBJECTIVE: To investigate the association between neonatal phototherapy use and childhood cancer. METHODS: This retrospective cohort study included 499 621 children born at ≥35 weeks' gestation from 1995 to 2011 in Kaiser Permanente Northern California hospitals, who survived to hospital discharge and were followed ≥60 days. We obtained data on home and inpatient phototherapy, covariates, and cancer incidence from electronic records. We used propensity-adjusted Cox and Poisson models to control for confounding and unequal follow-up times...
June 2016: Pediatrics
Bengt Zöller, Jianguang Ji, Jan Sundquist, Kristina Sundquist
BACKGROUND: Klinefelter syndrome (KS) is the most common sex chromosome disorder. The genetic background is the extra X chromosome. Venous thromboembolism (VTE) has been observed among KS patients. The aim of the present study was to examine whether KS is associated with VTE. METHODS AND RESULTS: We followed up all hospital in- and outpatients (N=1085) in Sweden with a diagnosis of KS between January 1, 1969, and December 31, 2010, for diagnosis of VTE. The reference population was the total male populace of Sweden...
May 2016: Journal of the American Heart Association
M Y Alp, A H Çebi, S Seyhan, A Cansu, H Aydin, M Ikbal
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies...
2016: Genetic Counseling
Layla Damasceno Espirito Santo, Lília Maria Azevedo Moreira, Mariluce Riegel
Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5. The disease severity, levels of intellectual and developmental delay, and patient prognosis have been related to the size and position of the deletion. Aiming to establish genotype-phenotype correlations, we applied array-CGH to evaluate six patients carrying cytogenetically detected deletions of the short arm of chromosome 5 who were followed at a genetics community service. The patients' cytogenetic and clinical profiles were reevaluated...
2016: BioMed Research International
Renée J Zwanenburg, Selma A J Ruiter, Edwin R van den Heuvel, Boudien C T Flapper, Conny M A Van Ravenswaaij-Arts
BACKGROUND: Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behavioural characteristics of this rare chromosomal disorder is still limited despite a rapid growing number of diagnoses. Our aim was to study a new and relatively large cohort to further characterize the developmental phenotype of children with PMS. METHODS: We performed a descriptive study of children with a 22q13...
2016: Journal of Neurodevelopmental Disorders
A Hrusca, A L Rachisan, P Gach, H Pico, C Sorensen, B Bonello, C Ovaert, P Petit, V Fouilloux, L Mace, G Gorincour
OBJECTIVES: To evaluate the use of non-ECG-gated computed tomography (CT) angiography to describe pulmonary and coronary defects in patients with tetralogy of Fallot (TOF). PATIENTS AND METHODS: This retrospective study was carried out on TOF patients having undergone pre-operative non-ECG-gated CT angiography between February 2007 and September 2012. The following clinical parameters were recorded: mean age at CT angiography, sex, the existence of genetic disease and the need to sedate the patient prior to CT angiography...
May 2016: Diagnostic and Interventional Imaging
Yoshiko Hirano, Hirokazu Oguni, Satoru Nagata
Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-threatening complications have rarely been described. We herein presented a case of a 17-year-old female with [r(20)] syndrome who developed recurrent status epilepticus (SE) at 14years of age that evolved into unremitting SE in spite of vigorous antiepileptic treatments...
September 2016: Brain & Development
Eun-Hye Shin, Eunhae Cho, Cha Gon Lee
Temple syndrome (TS, MIM 616222) is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. TS is a genetically complex disorder, which is associated with maternal uniparental disomy of chromosome 14 (UPD14), paternal deletions on chromosome 14, or loss of methylation at the intergenic differentially methylated region (IG-DMR). Here, we describe the case of a patient with maternal hetero-UPD14, mixed iso-/hetero-disomy mechanism identified by a single nucleotide polymorphism (SNP) array analysis of patient-father duos study...
August 2016: Brain & Development
T V Kharchenko, L G Arzhavkina, D A Siniachkin, A V Yazenok
UNLABELLED: OBJECTIVES. Chromosomal aberrations (CAs) are the one of the most sensitive biomarikers of biological effects from the hazardous environmental exposure. In this relation the comparison of cytogenetical indices in persons, exposed to the complex of factors of chemically hazard enterprises, with the presence of occupationally caused diseases seems to be very perspective for the understanding of the role of the contribution of genotoxical impact of occupational factors into staff morbidity...
2015: Gigiena i Sanitariia
Min Kyung Yu, Mo Kyung Jung, Ki Eun Kim, Ah Reum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation...
December 2015: Annals of Pediatric Endocrinology & Metabolism
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