Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.
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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
Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism
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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
The significance of trisomy 7 mosaicism in noninvasive prenatal screening
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DOI: 10.1186/s40246-019-0201-y
Abstract: BackgroundThis study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis.MethodA total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing… read more here.
Keywords: trisomy mosaicism; trisomy; mosaicism noninvasive; significance trisomy ... See more keywords