Known as D trisomy, Patau syndrome is the third chromosomopathy according to frequency. One of the 5000 newborn carries the trisomy 13. In over 80% cases there is fresh mutation with non separation in myeosis of older mother. The mosaic or translocation forms are not rare. The mail newborn with Patau syndrome is shown in this article. We notice: microcephalia, dolihocephalia, microphthalmia, cheilognatopalatoshisis, polydactilia, and found ultrasound changes at the brain, hearth and genitourinary system. Cytogenetic finding show: mail cariotype with aberrations 47, XY + 13, Sy Patau.
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Matern Child Health J
February 2025
Neonatal Intensive Care Unit, Cleveland Clinic Children's Hospital, 9500 Euclid Avenue #M31, Cleveland, OH, 44195, USA.
Objective: To examine the changes over recent years in neonatal survival to discharge, prevalence of adverse events, surgical procedures, tracheostomy and/or gastrostomy tube (G-tube) placement, and length of stay (LOS) in infants with Trisomy 13.
Methods: We identified newborn infants with Trisomy 13 in the National Inpatient Sample in the years 2003-2018. We calculated prevalence of associated conditions.
Eur J Pediatr
February 2025
Palliative Care and Pain Service, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.
Purpose: Trisomy 13 and 18 consist of a recurrent pattern of multiple congenital anomalies. The aim of this study was to analyze the clinical characteristics and disease trajectory of a cohort of children with trisomy 13 and 18 followed up by an Italian pediatric palliative care service.
Methods: A single-center retrospective observational study was conducted examining the medical records of patients with trisomy 13 and 18 seen in the Pediatric Palliatives Care (PPC) center of the University Hospital of Padua from 2007 to 2022.
J Steroid Biochem Mol Biol
April 2025
Department of Pharmacy, School of Pharmacy, Hyogo Medical University, Hyogo, Japan.
Trisomy 13 is a rare chromosomal abnormality mainly observed in patients with FAB M0, and is associated with increased FLT3 expression, characterized by aggressive and inferior outcomes. Herein, we describe a case of FLT3/ITD-positive acute myeloid leukemia with trisomy 13, whose neutropenia and thrombocytopenia were improved by corticosteroids with a decrease in blasts in the peripheral blood without chemotherapy. Only short-term chemotherapy could be administered because of the patient's poor general condition.
View Article and Find Full Text PDFUltrasound Obstet Gynecol
January 2025
Center for Fetal Care and High-Risk Pregnancy, University of Chieti, Chieti, Italy.
Objective: To report the diagnostic accuracy of cell-free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage.
Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20 weeks of gestation) who underwent cfDNA screening for trisomies 21, 18 and 13, other autosomal aneuploidies, sex-chromosome aneuploidies and/or copy-number variants (CNVs).
Paediatr Anaesth
March 2025
Department of Anaesthesiology and Intensive Care, Children's Health Ireland at Crumlin, Dublin, Ireland.
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