Reflections on a Prenatal Diagnosis of Trisomy 21 Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2016.2810
Abstract: I was 36 years old and 14 weeks pregnant with our second child. I picked up my telephone just prior to the start of a Thursday afternoon clinic. It was a nurse from the obstetrics… read more here.
Keywords: trisomy; trisomy syndrome; diagnosis; year old ... See more keywords
Trisomy 13‐confined placental mosaicism: is there an increased risk of gestational hypertensive disorders?
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5105
Abstract: Trisomy 13, also known as Patau syndrome, is the third most common aneuploidy, occurring in approximately 1 in 5000–10,000 live births. This condition is associated with holoprosencephaly, profound developmental delay, and is considered to be… read more here.
Keywords: trisomy; gestational hypertensive; hypertensive disorders; increased risk ... See more keywords
Morphology of early intrauterine deaths with full trisomy 15
Sign Up to like & getrecommendations! Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5230
Abstract: The morphologic features of embryos with full trisomy 15 are described. read more here.
Keywords: intrauterine deaths; trisomy; deaths full; morphology early ... See more keywords
Clinical impact of subcutaneous treprostinil in trisomy 21 patient with pulmonary arterial hypertension associated with CHD.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951121005096
Abstract: Subcutaneous treprostinil is commonly used to improve idiopathic pulmonary arterial hypertension in children. However, its effectiveness has not been reported in trisomy 21. We report the case of 9-year-old boy in trisomy 21 with CHD-pulmonary… read more here.
Keywords: arterial hypertension; hypertension; pulmonary arterial; clinical impact ... See more keywords
Trisomy 18: disparities of care and outcomes in the State of Texas between 2009 and 2019.
Sign Up to like & getrecommendations! Published in 2023 at "Cardiology in the young"
DOI: 10.1017/s1047951123000215
Abstract: OBJECTIVE To perform a statewide characteristics and outcomes analysis of the Trisomy 18 (T18) population and explore the potential impact of associated congenital heart disease (CHD) and congenital heart surgery. STUDY DESIGN Retrospective review of… read more here.
Keywords: heart surgery; 2009 2019; congenital heart; heart ... See more keywords
Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.
Sign Up to like & getrecommendations! Published in 2020 at "Fetal and pediatric pathology"
DOI: 10.1080/15513815.2020.1831660
Abstract: BACKGROUND Trisomy mosaicism of chromosome 5 is uncommon with few cases described. Case report: A 41-year-old woman underwent ultrasound (US) at 16 weeks, which showed oligohydramnios and intrauterine growth restriction (IUGR). Amniocentesis discovered a karyotype of… read more here.
Keywords: trisomy mosaicism; trisomy; congenital pulmonary; mosaicism ... See more keywords
Dissection of a down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.
Sign Up to like & getrecommendations! Published in 2023 at "Human molecular genetics"
DOI: 10.1093/hmg/ddad056
Abstract: As an aneuploidy, trisomy is associated with mammalian embryonic and postnatal abnormalities. Understanding the underlying mechanisms involved in mutant phenotypes is broadly important and may lead to new strategies to treat clinical manifestations in individuals… read more here.
Keywords: gene dosage; extra chromosome; gene; trisomy ... See more keywords
1007 Excessive REM Without Atonia in Adult Trisomy 21 Patient
Sign Up to like & getrecommendations! Published in 2023 at "SLEEP"
DOI: 10.1093/sleep/zsad077.1007
Abstract: REM sleep without atonia (RSWA) is associated with synucleinopathy neurodegenerative disorders; however, poorly described in other neurodegenerative disorders. We present an adult with trisomy 21, associated with higher risk of Alzheimer’s, with elevated REM percentage… read more here.
Keywords: neurodegenerative disorders; rem; adult trisomy; trisomy ... See more keywords
Trisomy 22 with long spina bifida occulta
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000012306
Abstract: Introduction: Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies. Patient… read more here.
Keywords: bifida occulta; spina bifida; trisomy; trisomy long ... See more keywords
Employ ductus venous blood flow in the early detection of trisomy 21, trisomy 18, and trisomy 13
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000014773
Abstract: Background and objective: Ductus venosus (DV) Doppler has been suggested as a biomarker for the early screening of trisomy diseases. However, results from different studies have been largely inconsistent. This study aimed to investigate the… read more here.
Keywords: t18; detection trisomy; ductus; value ... See more keywords
Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001753
Abstract: A 2-year-old girl presented with malaise, lethargy, tachycardia, pallor, and purpura. Laboratory evaluation was notable for pancytopenia with white blood cell count 7.6 TH/μL, absolute neutrophil count 608/μL, hemoglobin 5.8 g/dL, platelets 129 TH/μL, and… read more here.
Keywords: leukemia; diagnosis; san diego; mosaicism ... See more keywords