Category: Genetic

March 31, 2021

The Genetics Corner: The Positive Predictive Value of NIPT for 22q11 Deletion Syndrome Varies with the Indication
March 31, 2021

Medical Legal Forum: Case Debrief: J.S. v. The United States of America
February 28, 2021

Genetics Corner: An Infant with Amyoplasia Limited to the Upper Extremities
January 31, 2021

Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair
December 31, 2020

Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis
December 31, 2020

Ethics in Whole Genome Sequencing
December 31, 2020

Fellow Column: Identification of a Solitary Posterior Cervical Cystic Hygroma: A Case-report
October 31, 2020

The Genetics Corner: Hypophosphatasia
October 31, 2020

Case Report: Extremely Premature Infant without Spontaneous Movements Born to a Mother following COVID-19 Infection
September 30, 2020

The Genetics Corner: DiGeorge Anomaly Associated with Diabetic Embryopathy in an Infant without a Deletion on Chromosome 22q11
September 30, 2020

Fellow Column: An Unbalanced Translocation Involving Partial Duplication of Chromosome 6 and Partial Deletion of Chromosome 10 in a Premature Infant with Tetralogy of Fallot
September 20, 2020

Williams-Beuren Syndrome Presenting as Pulmonary Edema with Pleural Effusion: A New Pulmonary Manifestation of Elastin Vasculopathy
August 31, 2020

The Genetics Corner: HNF1B-Related Bilateral Cystic Kidney Disease in an Infant and his Asymptomatic Mother
July 31, 2020

The Genetics Corner: Congenital Microcephaly and a Region of Homozygosity on Chromosome 1 that was not Reported on the Prenatal Chromosome Microarray
June 30, 2020

Kabuki Syndrome in a Newborn with a Complex Left Sided Cardiac Lesion and Persistent Hypoglycemia dueto Hyperinsulinism