scholarly journals Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic

2021 ◽  
Author(s):  
Dariush Farhud ◽  
Rojiar Asgarian ◽  
Amelia Seifalian ◽  
Paria Mostafaeinejad ◽  
Maryam Eslami
Keyword(s):  
Turner Syndrome ◽  
Prenatal Screening ◽  
Genetic Disorder ◽  
Diagnostic Testing ◽  
Paternal Age ◽  
Parental Age ◽  
Medical Diagnostic ◽  
History Of ◽  
Genetic Clinic ◽  
Developmental Conditions

Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant’s factors and TS occurrence. Methods: From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients’ karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease. Results: Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher. Conclusion: Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment. 

Prenatal diagnosis of fetal abnormality: the decision to terminate the pregnancy and the psychological consequences

2002 ◽  
Vol 13 (4) ◽  
pp. 213-247 ◽  
Author(s):  
Helen Statham
Keyword(s):  
Prenatal Screening ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Psychological Consequences ◽  
Maternal Condition ◽  
Fetal Abnormality ◽  
Structural Anomaly ◽  
Increased Risk ◽  
History Of ◽  
Low Risk Women

In the absence of any prenatal screening, some two percent of babies will be born with a structural anomaly; a further 1 in 700–800 will be born with Down's syndrome, with similar numbers having other chromosomal and serious genetic disorders. The prevalence of abnormalities in early pregnancy is higher because abnormal fetuses are more likely to miscarry than normal ones. A small number of women enter pregnancy at increased risk of conceiving a baby with an abnormality. They may have a maternal condition such as diabetes, need medication for conditions such as epilepsy, or have a family history of a genetic disorder (www3.ncbi.nlm.nih.gov/Omim/searchomim.html). Most abnormalities, however, occur in healthy, low-risk women.

845 Progressive external ophthalmoplegia in sleep apnea presenting as floppy eyelid syndrome

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A329-A329
Author(s):  
Pratibha Anne ◽  
Rupa Koothirezhi ◽  
Ugorji Okorie ◽  
Minh Tam Ho ◽  
Brittany Monceaux ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Surgical Treatment ◽  
Sleep Apnea ◽  
Genetic Disorder ◽  
Deltoid Muscle ◽  
Progressive External Ophthalmoplegia ◽  
Ataxic Gait ◽  
Pressure Setting ◽  
Obstructive Sleep ◽  
History Of

Abstract Introduction Floppy eye lid syndrome (FES) is known to be associated with Obstructive sleep apnea (OSA) and chronic progressive external ophthalmoplegia (CPEO) is a rare genetic disorder with mitochondrial myopathy that may present with isolated eye lid ptosis in the initial stages. In a patient with loud snoring and obesity, treating obstructive sleep apnea may improve Floppy eyelid syndrome. Report of case(s) 52-year-old African – American male with past medical history of Hypertension, obesity, glaucoma, CPEO status bilateral blepharoplasty with failed surgical treatment. Patient was referred to Sleep medicine team to rule out Obstructive Sleep Apnea aa a cause of possible underlying FES and residual ptosis. On exam, patient was noted to have bilateral brow and eyelid ptosis and mild ataxic gait. MRI brain with and without contrast was unremarkable. Deltoid muscle biopsy was suggestive of possible congenital myopathy and mild denervation atrophy. Polysomnogram showed severe OSA with AHI of 74.1 per hour and patient was initiated on Auto CPAP at a pressure setting of 7–20 cm H2O. CPAP treatment improved snoring, OSA and subjective symptoms of excessive day time sleepiness but did not improve the residual ptosis. Conclusion Treatment of severe OSA in a patient previously diagnosed with CPEO and failed surgical treatment with bilateral blepharoplasty, did not alter the course of residual ptosis/ floppy eyelids even though his other sleep apnea symptoms have improved. Support (if any) 1. McNab AA. Floppy eyelid syndrome and obstructive sleep apnea. Ophthalmic Plast Reconstr Surg. 1997 Jun;13(2):98–114. doi: 10.1097/00002341-199706000-00005. PMID: 9185193.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

scholarly journals A215 MDR3 DEFICIENCY MIMICKING WILSON DISEASE

2021 ◽  
Vol 4 (Supplement_1) ◽  
pp. 247-248
Author(s):  
M Flanagan ◽  
R Little ◽  
I Siddiqui ◽  
N Jones ◽  
V Ng
Keyword(s):  
Bile Acids ◽  
Wilson Disease ◽  
Genetic Disorder ◽  
Multi Drug Resistance ◽  
Total Serum ◽  
Cholestatic Liver Disease ◽  
Class Iii ◽  
Her Family ◽  
Abcb4 Gene ◽  
History Of

Abstract Background The chronic phenotype of ALF includes a broad differential diagnosis. Class III multi-drug resistance P-glycoprotein 3 (MDR3) deficiency, also referred to as progressive familial intrahepatic cholestasis type 3, is an autosomal recessive genetic disorder. It is caused by a defect on the ABCB4 gene located on chromosome 7, which encodes MDR3. MDR3 is responsible for transporting phosphatidylcholine across the canalicular membrane, thereby allowing it to be incorporated into bile micelles. MDR3 deficiency results in increased levels of free bile acids and detergent bile. Progressive cholangiopathy ensues from this detergent bile and indirectly leads to cholestasis and liver failure in severe cases. Significantly increased urinary and hepatic copper (Cu), which are hallmarks of Wilson disease, have also been reported in patients with acute hepatitis and cholestasis including patients with MDR3 deficiency Aims We report a case of a girl who presented with a chronic phenotype of PALF, who had multiple features of Wilson disease and so was treated as such until genetic analysis confirmed MDR3 deficiency Methods Results A 6 year old girl presented to the ED with a 1mth history of epistaxis and a 1wk history of abdominal pain and distension, facial edema, pallor and fever. Her family history was significant for parental consanguinity and maternal itch during pregnancy. On examination she had clubbing, scleral icterus and a distended abdomen with hepatosplenomegaly. Her bloodwork showed bicytopenia (HGB 53 & Plts 63) along with liver dysfunction (INR 2.9, albumin 25, conjugated bilirubin 9) and raised liver enzymes (transaminases & GGT >10xULN). Her total serum bile acids were raised at 134. An US showed hepatosplenomegaly with multiple hyperechoic nodules and perisplenic varices. She was extensively worked up for malignancy, autoimmune and metabolic disease. Serum ceruloplasmin was reduced, ophthalmology examination showed no KF rings and her 24hr urinary Cu was 10xULN. Liver Cu quantification was markedly raised at 40xULN. Liver biopsy showed cirrhosis with fibrosis related minimal non-specific portal and septal inflammation. Additionally, complete loss of canalicular staining on immunohistochemistry for MDR3 protein was noted, suggestive of MDR3 deficiency. Based on the Cu levels, a provisional diagnosis of Wilson disease was made and Cu chelation therapy was commenced pending genetic testing. A cholestatic gene panel subsequently showed homozygous pathogenic variant for the ABCB4 gene. Trientine was stopped and she was commenced on ursodeoxycholic acid. Though biochemically she remains largely unchanged, she is clinically stable whilst awaiting a liver transplant Conclusions This case highlights the diagnostic difficulties associated with Cu test result interpretation in patients with chronic cholestatic liver disease and urges a thorough consideration of alternative diagnoses of PALF Funding Agencies None

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

scholarly journals 0897 Sleep Disordered Breathing In Pediatric Patients With Turner Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn
Keyword(s):  
Sleep Apnea ◽  
Turner Syndrome ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Genetic Disorder ◽  
Case Series ◽  
Growth Failure ◽  
Retrospective Chart Review ◽  
Upper Airway Resistance Syndrome ◽  
Disordered Breathing

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.

scholarly journals Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

2015 ◽  
Vol 7 (2) ◽  
pp. 142-147 ◽  
Author(s):  
Joao McONeil Plancher ◽  
Robert B. Hufnagel ◽  
Achala Vagal ◽  
Katrina Peariso ◽  
Howard M. Saal ◽  
...  
Keyword(s):  
Contrast Enhancement ◽  
Head Trauma ◽  
Small Vessel Disease ◽  
Genetic Disorder ◽  
Single Gene ◽  
Young Patients ◽  
Pathogenic Mutation ◽  
Small Vessel ◽  
Vessel Disease ◽  
History Of

With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and describe a previously unreported pathogenic missense substitution in COL4A1 (p.Gly990Val) and a new clinical presentation. We identified a heterozygous putatively pathogenic mutation of COL4A1 in a 50-year-old female with a history of congenital cataracts and glaucoma who presented with multiple diffusion-positive infarcts and areas of contrast enhancement following mild head trauma. We believe that this presentation of multiple areas of acute brain and vascular injury in the setting of mild head trauma is a new manifestation of this genetic disorder. Imaging findings of multiple acute infarcts and regions of contrast enhancement with associated asymptomatic old deep microhemorrhages and leukomalacia in adults after head trauma should raise a high suspicion for a COL4A1 genetic disorder. Radiographic patterns of significant leukoaraiosis and deep microhemorrhages can also be seen in patients with long-standing vasculopathy associated with hypertension, which our patient lacked. Our findings demonstrate the utility of genetic screening for COL4A1 mutations in young patients who have small vessel vasculopathy on brain imaging but who do not have significant cardiovascular risk factors.

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