Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

Masitah Ibrahim, Matthew Hunter, Lucy Gugasyan, Yuen Chan, Atul Malhotra, Arvind Seghal, Kenneth Tan

Research output: Contribution to journalArticleOtherpeer-review

Abstract

We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.
Original languageEnglish
Pages (from-to)164-169
Number of pages6
JournalClinical Case Reports
Volume5
Issue number2
DOIs
Publication statusPublished - Feb 2017

Cite this

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title = "Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch",
abstract = "We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.",
author = "Masitah Ibrahim and Matthew Hunter and Lucy Gugasyan and Yuen Chan and Atul Malhotra and Arvind Seghal and Kenneth Tan",
year = "2017",
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language = "English",
volume = "5",
pages = "164--169",
journal = "Clinical Case Reports",
issn = "2050-0904",
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Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. / Ibrahim, Masitah; Hunter, Matthew; Gugasyan, Lucy; Chan, Yuen; Malhotra, Atul; Seghal, Arvind; Tan, Kenneth.

In: Clinical Case Reports, Vol. 5, No. 2, 02.2017, p. 164-169.

Research output: Contribution to journalArticleOtherpeer-review

TY - JOUR

T1 - Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

AU - Ibrahim, Masitah

AU - Hunter, Matthew

AU - Gugasyan, Lucy

AU - Chan, Yuen

AU - Malhotra, Atul

AU - Seghal, Arvind

AU - Tan, Kenneth

PY - 2017/2

Y1 - 2017/2

N2 - We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.

AB - We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.

U2 - 10.1002/ccr3.759

DO - 10.1002/ccr3.759

M3 - Article

C2 - 28174644

VL - 5

SP - 164

EP - 169

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 2

ER -