Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 164-169 |
| Number of pages | 6 |
| Journal | Clinical Case Reports |
| Volume | 5 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2017 |
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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 journal › Article › Other › peer-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 -