Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal...

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Bibliographic Details
Published in:Prenatal diagnosis 2003-11, Vol.23 (11), p.938-943
Main Authors: L'Herminé, A. Coulomb, Aboura, A., Brisset, S., Cuisset, L., Castaigne, V., Labrune, P., Frydman, R., Tachdjian, G.
Format: Article
Language:English
Subjects:
Abortion, Eugenic
Amniocentesis
Biological and medical sciences
Birth control
Chorionic Villi Sampling
chromosome 15
Chromosomes, Human, Pair 15 - genetics
corpus callosum
disomy
Embryonic and Fetal Development
Female
genitalia
Gynecology. Andrology. Obstetrics
Hormonal contraception
Humans
Male
Maternal Age
Medical sciences
Metabolic diseases
Middle Aged
Obesity
Prader-Willi
Prader-Willi Syndrome - diagnosis
Prader-Willi Syndrome - genetics
Pregnancy
Pregnancy Trimester, First
Pregnancy, High-Risk
Prenatal Diagnosis
Uniparental Disomy
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Summary:Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra‐uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.732