Perinatal findings in a patient with a novel large chromosome 19p deletion

Marko Culjat; Jennifer Razak; Reem Saadeh-Haddad; Rita Driggers; Karen Kamholz; Julia Timofeev

doi:10.1002/ccr3.1615

Perinatal findings in a patient with a novel large chromosome 19p deletion

Marko Culjat, Jennifer Razak, Reem Saadeh-Haddad, Rita Driggers, Karen Kamholz, Julia Timofeev

School of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Pages (from-to)	1525-1530
Number of pages	6
Journal	Clinical Case Reports
Volume	6
Issue number	8
DOIs	https://doi.org/10.1002/ccr3.1615
State	Published - Aug 2018

Keywords

19p deletion
hiatal hernia
hypotonia
intrauterine growth restriction
neonate
pyloric stenosis
small for gestational age

ASJC Scopus subject areas

General Medicine

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10.1002/ccr3.1615

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title = "Perinatal findings in a patient with a novel large chromosome 19p deletion",

abstract = "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.",

keywords = "19p deletion, hiatal hernia, hypotonia, intrauterine growth restriction, neonate, pyloric stenosis, small for gestational age",

author = "Marko Culjat and Jennifer Razak and Reem Saadeh-Haddad and Rita Driggers and Karen Kamholz and Julia Timofeev",

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AU - Saadeh-Haddad, Reem

AU - Driggers, Rita

AU - Kamholz, Karen

AU - Timofeev, Julia

PY - 2018/8

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KW - hiatal hernia

KW - hypotonia

KW - intrauterine growth restriction

KW - neonate

KW - pyloric stenosis

KW - small for gestational age

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Perinatal findings in a patient with a novel large chromosome 19p deletion

Abstract

Keywords

ASJC Scopus subject areas

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