Results 141 to 150 of about 76,750 (219)

Mosaic Trisomy 14 with Severe Short Stature: A Case Report. [PDF]

Genes (Basel)
Yin C, Ye J, Hou L, Luo X.
europepmc   +1 more source

Congenital Lung Malformations in Neonates: A 9‐Year Tunisian Cohort Highlighting Diagnostic Challenges and Outcomes in a Resource‐Limited Setting

Pediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Background Congenital lung malformations (CLMs) represent a broad spectrum of developmental anomalies with highly variable prenatal and postnatal presentations and outcomes. Their postnatal management remains non‐standardized. This study aimed to describe the spectrum of bronchopulmonary malformations diagnosed in the neonatal period, assess ...
Hajer Chourou, Rim Ben Aziza, Wafa Belhadj Ammar, Cyrine Saadi, Maryem Marzouki, Youssef Hellal, Said Jlidi, Samia Kacem, Bilel Jerbi   +8 more
wiley   +1 more source

Hematologic Manifestations of Constitutional Trisomy 8 Mosaicism: Two Cases and a Systematic Review of Cytogenetically Confirmed Patients. [PDF]

Genes Chromosomes Cancer
Magni A, Pagani R, Alviano AM, Bruno LP, Fumagalli R, Fazio G, Galbiati M, Mottadelli F, Biondi A, L'Imperio V, Balduzzi AC, Vendemini F, Saettini F.   +12 more
europepmc   +1 more source

Cumulative disruption of regulatory genes precedes whole-chromosome gains in acute myeloid leukemia. [PDF]

Leukemia
Liang M, Pan Y, Saw NYL, Lu X, Mondaini A, Tsui SP, Ng NKL, Leung SY, Huen M, Leung AYH, Javed A.   +10 more
europepmc   +1 more source

Trisomy 9: a case report

, 2001
Chromosomal aberrations are one of the most frequent causes of multiple congenital malformations and mental retardation. Trisomy 21, 18 and 13 are the most common varieties of autosomal trisomy recognized at birth; most of the others lead to spontaneous ...
Habib, Aysha, Khilj, Zahida, Azim, M., Khurshid, Mohammad   +3 more
core  

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Premature Ductus Arteriosus Constriction and Pulmonary Trunk Dilation in a Case of Non-Immune Hydrops Fetalis With Trisomy 21. [PDF]

Clin Case Rep
Mohadeseh N, Zinatosadat H, Mojde P.
europepmc   +1 more source

Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta‐Analysis

Acta Paediatrica, Volume 115, Issue 10, Page 2063-2077, October 2026.
ABSTRACT Aim To estimate the prevalence of breastfeeding—overall, exclusive, partial and depending on infants' age—in infants with Down syndrome, and to investigate associated factors. Methods A systematic literature search was conducted in Medline, Cochrane Library, Web of Science, Embase, CINAHL and SciELO up to 1 August 2024.
Mélina Balland, Julia Prillard, Irène Loras‐Duclaux, Caroline Giroudon, Amélie Zelmar, Damien Sanlaville, Mikail Nourredine   +6 more
wiley   +1 more source

Favorable Response to Immunosuppressive Therapy in Severe Aplastic Anemia With Trisomy 8 and BCOR Mutation: Sustained Hematologic Response Despite Evolving Mutational Profile-A Case Report. [PDF]

Clin Case Rep
Shen M, Wei Y, Shao B, Qin C, Jia X, Jiang H, Jia J.   +6 more
europepmc   +1 more source

Critically Ill Children Show Disrupted Sleep Patterns and Atypical Electroencephalograms: An Observational Cohort Study

Acta Paediatrica, Volume 115, Issue 10, Page 2323-2331, October 2026.
ABSTRACT Aim Sleep disruptions are common in hospitalised children. This study described sleep in critically ill and non‐critically ill hospitalised children, including young infants and patients with central nervous system injuries. Methods This observational cohort study included two groups: critically ill children admitted to a paediatric intensive ...
Eris van Twist, Arnout B. G. Cramer, Sascha C. A. T. Verbruggen, Maartje Louter, Karlien Veldscholte, Koen F. M. Joosten, Matthijs de Hoog, Karla Biesheuvel, Dirk C. G. Straver, Rogier C. J. de Jonge   +9 more
wiley   +1 more source