A5018080142- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Congenital Ear and Nasal Anomalies
- Protease and Inhibitor Mechanisms
- Cancer-related Molecular Pathways
- Congenital Heart Disease Studies
- Cardiac Valve Diseases and Treatments
- Connective tissue disorders research
- Animal Genetics and Reproduction
- Tracheal and airway disorders
University of Iowa Hospitals and Clinics
2021-2024
University of Iowa Health Care
2024
University of Iowa
2022-2024
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition in which patients are heterozygous for a disruptive pathogenic variant the NF1 gene. The most characteristic feature of neurofibroma, benign, multi-cellular tumor initiates when cell Schwann lineage gains somatic other allele. Neurofibromas developing at nerve termini skin termed "cutaneous" neurofibromas (cNFs), while those within larger nerves "plexiform." Most develop cNFs beginning late childhood or early adulthood,...
Potocki-Lupski syndrome<strong> </strong>(PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here 3-year-old girl diagnosed with mosaic PTLS harboring supernumerary marker chromosome containing the <em>RAI1</em> (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, FISH analysis, identified...
The American College of Medical Genetics and Genomics (ACMG) guideline recommends the use exome sequencing (ES) or genome (GS) as a first second-tier test in patients with multiple congenital anomalies (MCA), developmental delay (DD) intellectual disability (ID). This has led to identification dual molecular diagnoses significant number complex cases clinical grade ES/GS. Reverse-phenotyping these have paved way for dynamic diagnostic evaluation, highlights iterative process required solving...
ABSTRACT Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present 4‐month‐old male with dysmorphic facial features congenital cardiac malformation. Chromosomal microarray identified pathogenic triplication of chromosome analysis showing the extra 5q material inserted into 16q. Optical genome mapping (OGM) was performed to further characterize triplication. We compared clinical our proband previous case reports individuals duplications or...
Abstract Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed define phenotypic spectrum. It also highlights importance chromosome analysis identify structural abnormalities that result in aneuploidy.