Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction.
BACKGROUND
There is a well-documented association between prenatally diagnosed chromosomal uniparental disomy and poor pregnancy outcome.


RESULTS
In this study, we identified an intrauterine growth restricted fetus carrying a maternal UPD 16 with segmental hetero- and isodisomy using the Affymetrix CytoScan HD SNP-array and the UPDtool. We also performed FISH to exclude trisomy mosaicism of chr.16. We then explored the genetic mechanisms of how imprinted genes cause clinical abnormalities. Additionally, we reviewed the mUPD16 literature, compared the clinical phenotypes of our patient with other reported cases, and assessed the loss of autosomal-recessive genes in the regions of homozygosity.


CONCLUSIONS
Considering UPD mechanism of potential impact on the function of the placenta, the genetic composition of chromosome 16, and the information previous literature reports, we have reason to believe that UPD16 correlates with IUGR.
Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China.
Xie
X
Yingjun
Obstetric Department, Shenzhen People's Hospital, The Second Clinical Medical School of Jinan University, Shenzhen 518020, China.
Hu
H
Zhiyang
Obstetric Department, Shenzhen People's Hospital, The Second Clinical Medical School of Jinan University, Shenzhen 518020, China.
Lin
L
Linhua
Obstetric Department, Shenzhen People's Hospital, The Second Clinical Medical School of Jinan University, Shenzhen 518020, China.
Su
S
Fangming
Fetal Medicine Centre, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China.
Huang
H
Linhuan
Gynecology Department, Department of Obstetrics and Gynecology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
Tan
T
Jinfeng
Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China.
Pang
P
Qianying
Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China. Electronic address: xiaofangsun@hotmail.com.
Sun
S
Xiaofang
D000328:Adult; D002885:Chromosomes, Human, Pair 16; D020732:Cytogenetic Analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D024182:Uniparental Disomy / Q000175:diagnosis*
Fetus; Imprinted genes; Intrauterine growth restriction; SNP-array; UPDtool; Uniparental disomy