1. Perinatal findings in a patient with a novel large chromosome 19p deletion
- Author
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Reem Saadeh-Haddad, Jennifer Razak, Karen Kamholz, Rita Driggers, Julia Timofeev, and Marko Culjat
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,intrauterine growth restriction ,Intrauterine growth restriction ,Case Report ,Case Reports ,Pyloric stenosis ,Hiatal hernia ,03 medical and health sciences ,small for gestational age ,Medicine ,hypotonia ,business.industry ,19p deletion ,Chromosome ,General Medicine ,medicine.disease ,Hypotonia ,pyloric stenosis ,030104 developmental biology ,Small for gestational age ,medicine.symptom ,neonate ,business ,hiatal hernia - Abstract
Key Clinical Message We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complications.
- Published
- 2018