Partial trisomy 22 is a rare condition that is found in live birth. In most cases, diagnosis of partial trisomy 22 was made after birth. Herein, we report a prenatal diagnosis of fetal partial trisomy 22 in a 28-year-old pregnant woman presented with fetal cystic hygroma. Structural abnormalities were detected at 16 weeks of gestation: left cleft lip and ventricular septal defect. The G-banding karyotype analysis and fluorescence in situ hybridization showed partial trisomy 22. It is recommended that pregnant women with fetal anomalies should have prenatal genetic diagnosis to ascertain whether the fetus has partial trisomy 22 or other rare chromosomal abnormalities.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970674 | PMC |
| http://dx.doi.org/10.1177/2050313X21991000 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.
J Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21.
Am J Med Genet B Neuropsychiatr Genet
January 2025
Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.
People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non-mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized. This study aimed to examine the prevalence of self-report and caregiver-report symptoms of depression and anxiety among a sample of 62 participants with mDS aged 12-46 and assess their association with the percentage of trisomy 21 in blood and/or buccal mucosa cells.
View Article and Find Full Text PDFTrisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.
Eur J Pediatr
January 2025
Unit of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.
Trisomy 18 is a severe aneuploidy associated with multiple malformations and a poor prognosis. The diagnosis is typically made prenatally, leading to a high rate of pregnancy terminations. The aim of this study is to demonstrate that even though the prognosis is heterogeneous, prolonged survival is possible and these children are an enrichment for their families after all.
View Article and Find Full Text PDFPromoting Health Equity for Children With Special Health Care Needs and Child Welfare Involvement.
Hosp Pediatr
January 2025
Department of Pediatrics, New York-Presbyterian Morgan Stanley Children's Hospital/Columbia University Irving Medical Center, New York, New York.
Noah, an 18-month-old infant with trisomy 21, was brought to the emergency department for adenovirus bronchiolitis. He was found to meet criteria for severe malnutrition, and his medical team called Child Protective Services (CPS) with concern for neglect. He remained hospitalized for 1 month while a safe discharge was coordinated by the medical and CPS teams.
View Article and Find Full Text PDFBeta cell function and global glucose metabolism are impaired in Dp(16)1Yey mouse model of Down syndrome.
Diabetes Obes Metab
January 2025
BFA, UMR 8251, CNRS, Team « Biologie et Pathologie du Pancréas Endocrine », Université Paris Cité, Paris, France.
Aims: Down syndrome (DS) or trisomy 21 is the most prevalent genetic disorder in the world. In addition to common symptoms such as intellectual disabilities and morphological abnormalities, several comorbidities are associated with DS, including metabolic dysfunction. Obesity and diabetes are more prevalent in people with DS compared with the general population.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!