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

Ibrahim Masitah | Zendy; Hunter Matthew | Zendy; Gugasyan Lucy | Zendy; Chan Yuen | Zendy; Malhotra Atul | Zendy; Sehgal Arvind | Zendy; Tan Kenneth | Zendy

Open Access

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

Author(s) -

Ibrahim Masitah,

Hunter Matthew,

Gugasyan Lucy,

Chan Yuen,

Malhotra Atul,

Sehgal Arvind,

Tan Kenneth

Publication year - 2017

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.759

Subject(s) - medicine , congenital diaphragmatic hernia , hydrops fetalis , interrupted aortic arch , diaphragmatic hernia , diaphragmatic breathing , aortic arch , chromosome , heart defect , congenital malformations , fetus , anatomy , hernia , cardiology , surgery , heart disease , pathology , aorta , genetics , pregnancy , alternative medicine , biology , gene

Key Clinical Message 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 .

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