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Case Reports in Genetics

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https://www.readbyqxmd.com/read/27610251/ring-chromosome-4-in-a-child-with-multiple-congenital-abnormalities-a-case-report-and-review-of-the-literature
#1
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27375909/adult-prader-willi-syndrome-an-update-on-management
#2
Luk Ho-Ming
With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27239352/multiple-coronary-artery-microfistulas-in-a-girl-with-kleefstra-syndrome
#3
Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I Zafeiriou
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27195159/whole-exome-sequencing-leading-to-the-diagnosis-of-dysferlinopathy-with-a-novel-missense-mutation-c-959g-c
#4
Abhisek Swaika, Nicole J Boczek, Neha Sood, Kimberly Guthrie, Eric W Klee, Ankit Agrawal, Elliot L Dimberg, Sikander Ailawadhi
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014). Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and requires a high clinical suspicion for early intervention to prolong survival. Amyloid myopathy is typically associated with other systemic manifestations of amyloidosis, but rare cases of isolated amyloid myopathy have been described (Mandl et al...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27123349/novel-gla-deletion-in-a-cypriot-female-presenting-with-cornea-verticillata
#5
Theodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, Elena Spanou-Aristidou, Isavella Savva, Theodoros Christodoulides, Maria Krasia, Violetta Christophidou-Anastasiadou, Carolina Sismani, Anthi Drousiotou, George A Tanteles
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascular systems, kidneys, and heart. Heterozygous females typically exhibit milder symptoms and a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27069701/early-infantile-epileptic-encephalopathy-in-an-stxbp1-patient-with-lactic-acidemia-and-normal-mitochondrial-respiratory-chain-function
#6
Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J Falk, Hakon Hakonarson
A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. STXBP1 mutations have recently been associated with mitochondrial pathology, although it remains unclear if this phenotype is a part of the core feature for this gene disorder. We report a 7-year-old boy who presented for diagnostic evaluation of intractable epilepsy, episodic ataxia, resting tremor, and speech regression following a period of apparently normal early development...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26998368/false-negative-cell-free-dna-screening-result-in-a-newborn-with-trisomy-13
#7
Yang Cao, Nicole L Hoppman, Sarah E Kerr, Christopher A Sattler, Kristi S Borowski, Myra J Wick, W Edward Highsmith, Umut Aypar
Background. Noninvasive prenatal screening (NIPS) is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA) circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the published data for NIPS testing states that the current technique ensures high sensitivity and specificity for aneuploidy detection, false positives are possible due to isolated placental mosaicism, vanishing twin or cotwin demise, and maternal chromosome abnormalities or malignancy...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26955491/de-novo-interstitial-microdeletion-at-1q32-1-in-a-10-year-old-boy-with-developmental-delay-and-dysmorphism
#8
Jennifer Carter, Melinda Zombor, Adrienn Máté, László Sztriha, Jonathan J Waters
A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26942024/angelman-like-syndrome-a-genetic-approach-to-diagnosis-with-illustrative-cases
#9
Ho-Ming Luk
Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26942023/de-novo-trisomy-1q10q23-3-mosaicism-causes-microcephaly-severe-developmental-delay-and-facial-dysmorphic-features-but-no-cardiac-anomalies
#10
Shirley Lo-A-Njoe, Lars T van der Veken, Clementien Vermont, Louise Rafael-Croes, Vincent Keizer, Ron Hochstenbach, Nine Knoers, Mieke M van Haelst
Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26904320/osteoporosis-pseudoglioma-in-a-mauritanian-child-due-to-a-novel-mutation-in-lrp5
#11
Noura Biha, S M Ghaber, M M Hacen, Corinne Collet
Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26885414/a-novel-nonsense-mutation-of-the-agl-gene-in-a-romanian-patient-with-glycogen-storage-disease-type-iiia
#12
Anca Zimmermann, Heidi Rossmann, Simona Bucerzan, Paula Grigorescu-Sido
Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3-year-old boy from a nonconsanguineous Romanian family, who presented with severe hepatomegaly with fibrosis, mild muscle weakness, cardiomyopathy, ketotic fasting hypoglycemia, increased transaminases, creatine phosphokinase, and combined hyperlipoproteinemia...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26843994/early-morphokinetic-monitoring-of-embryos-after-intracytoplasmic-sperm-injection-with-fresh-ejaculate-sperm-in-nonmosaic-klinefelter-syndrome-a-different-presentation
#13
Ali Sami Gurbuz, Ahmet Salvarci, Necati Ozcimen, Ayse Gul Zamani
The patient was diagnosed with nonmosaic 47, XXY Klinefelter Syndrome with the AZF deletion absent and SRY+. The nonmosaic 47, XXY karyotype was confirmed on a skin biopsy chromosomal analysis. Using only ejaculate motile sperms, 11 oocytes underwent ICSI and were placed rapidly in a time lapse (Embryoscope ©) with a specific culture dish. Biopsies were performed on six embryos on the 3rd day, and numerical chromosomal abnormalities were observed using the FISH test before transfer. PGS results were normal in only two embryos with normal morphokinetics in the Embryoscope...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26798524/intermediate-mcad-deficiency-associated-with-a-novel-mutation-of-the-acadm-gene-c-1052c-t
#14
Holli M Drendel, Jason E Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. ACADM is the only candidate gene causing MCAD deficiency. A single nucleotide change, c.985A>G, occurring at exon 11 of the ACADM gene, is the most prevalent mutation. In this study, we report a Caucasian family with multiple MCADD individuals. DNA sequence analysis of the ACADM gene performed in this family revealed that two family members showing mild MCADD symptoms share the same novel change in exon 11, c...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26770845/mitchell-riley-syndrome-a-novel-mutation-in-rfx6-gene
#15
Marta Zegre Amorim, Jayne A L Houghton, Sara Carmo, Inês Salva, Ana Pita, Luis Pereira-da-Silva
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26664771/the-use-of-high-density-snp-array-to-map-homozygosity-in-consanguineous-families-to-efficiently-identify-candidate-genes-application-to-woodhouse-sakati-syndrome
#16
Molly B Sheridan, Elizabeth Wohler, Denise A S Batista, Carolyn Applegate, Julie Hoover-Fong
Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition. Both required hormone treatment to produce secondary sex characteristics and pubertal development beyond Tanner 1. SNP array analysis of both probands was performed to detect shared regions of homozygosity which may harbor homozygous mutations in a gene causing their common features of abnormal pubertal development, alopecia, and variable cognitive delay...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26640726/hereditary-neuropathy-with-liability-to-pressure-palsies-masked-by-previous-gunshots-and-tuberculosis
#17
Martin Gencik, Josef Finsterer
Objectives. Although hereditary neuropathy with liability to pressure palsies (HNPP) presents with a distinct phenotype on history, clinical exam, and nerve conduction studies, it may be masked if diagnostic work-up suggests other causes. Case Report. In a 37-year-old male with pseudoradicular lumbar pain, neurological exam revealed sore neck muscles, peripheral facial nerve palsy, right anacusis and left hypoacusis, hemihypesthesia of the right face, mild distal quadriparesis, diffuse wasting, and generally reduced tendon reflexes...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26587300/whole-exome-sequencing-reveals-compound-heterozygosity-for-ethnically-distinct-pex7-mutations-responsible-for-rhizomelic-chondrodysplasia-punctata-type-1
#18
Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R Love, Stephen P Robertson, Russell G Snell, Klaus Lehnert
We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in the peroxisome biogenesis factor 7 gene in both individuals...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26543653/progressive-lower-extremity-weakness-and-axonal-sensorimotor-polyneuropathy-from-a-mutation-in-kif5a-c-611g-a-p-arg204gln
#19
Nivedita U Jerath, Tiffany Grider, Michael E Shy
Introduction. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves). Methods. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive weakness. He was wheelchair-bound by age 25. He was evaluated by laboratory testing, imaging, electrodiagnostics, and molecular genetics. Results. Electrodiagnostic testing revealed an axonal sensorimotor polyneuropathy...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/26417463/different-cardiac-anomalies-in-mother-and-son-with-4q-syndrome
#20
Marcello Marcì, Angela Guarina, M Cristina Castiglione, Nicola Sanfilippo
We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far.
2015: Case Reports in Genetics
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