| Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes. | |
| | |
MedLine Citation:
|
PMID: 19442969 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
OBJECTIVE: To describe the molecular and cytogenetic characterization of two different prenatal cases of androgenetic/biparental mosaicism and review the different possible mechanisms of origin in each case. DESIGN: Case study and literature review. SETTING: Tertiary medical center (prenatal diagnosis unit). PATIENT(S): A 26-year-old pregnant woman referred for suspected partial mole placenta and a 33-year-old pregnant woman referred for polyhydramnios and fetal malformations. INTERVENTION(S): Ultrasound examination, prenatal invasive procedures, molecular and cytogenetic analysis, physical and pathologic evaluation, and genetic counseling. MAIN OUTCOME MEASURE(S): Cytogenetic analysis, fluorescent in situ hybridization, and quantitative fluorescence polymerase chain reaction (QF-PCR) analysis. RESULT(S): The finding of a normal karyotype together with a triploidy-like QF-PCR profile led to the diagnosis of two cases of androgenetic (genome-wide paternal uniparental disomy)/biparental mosaicism. The first case showed placental mesenchymal dysplasia and a normal fetus, and the second one presented a fetus showing Beckwith-Wiedemann syndrome features and an apparently normal placenta. CONCLUSION(S): These cases highlight the wide range of possible clinical presentations of androgenetic/biparental mosaicism, the variety of mechanisms of their origin, and the importance of the combination of molecular and cytogenetic analysis to achieve an accurate diagnosis and provide reproductive counseling. |
| | |
Authors:
|
Carme Morales; Anna Soler; Cèlia Badenas; Laia Rodríguez-Revenga; Alfons Nadal; José M Martínez; Irene Mademont-Soler; Antoni Borrell; Montserrat Milà; Aurora Sánchez |
Related Documents
:
|
16760729 - The tale of a nail sign in chromosome 4q34 deletion syndrome. 18956429 - Prenatal diagnosis and outcome of echogenic fetal lung lesions. 9272709 - Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy ... 12704739 - Abdominal wall defects and congenital heart disease. 15270409 - An unusal case of hermaphroditism--a 46,xx/69,xxy chimera. 9050069 - Embolism of fetal brain tissue to the lungs and the placenta. 17204099 - Topical 5-aminolaevulinic acid photodynamic therapy for intractable palmoplantar psoria... 15566689 - Effect of arousal methods for 175 cases of prolonged coma after severe traumatic brain ... 19718249 - Survival following rectal impalement through the pelvic, abdominal, and thoracic caviti... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-05-13 |
Journal Detail:
|
Title: Fertility and sterility Volume: 92 ISSN: 1556-5653 ISO Abbreviation: Fertil. Steril. Publication Date: 2009 Jul |
Date Detail:
|
Created Date: 2009-06-29 Completed Date: 2009-07-29 Revised Date: 2010-01-28 |
Medline Journal Info:
|
Nlm Unique ID: 0372772 Medline TA: Fertil Steril Country: United States |
Other Details:
|
Languages: eng Pagination: 393.e5-9 Citation Subset: IM |
Affiliation:
|
Servei de Bioquímica i Genètica Molecular, Mejía Lequerica s/n, Barcelona, Spain. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Chorionic Villi Sampling Female Genome, Human Genome-Wide Association Study Humans Karyotyping Male Mosaicism* Polymerase Chain Reaction Pregnancy Pregnancy Outcome* Uniparental Disomy / genetics* |
| Comments/Corrections | |
Comment In:
|
Fertil Steril. 2010 Jan;93(1):e1; author reply e2
[PMID:
20004385
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Long-term oral contraceptive pills and postoperative pain management after laparoscopic excision of ...
Next Document: Can an educational DVD improve the acceptability of elective single embryo transfer? A randomized co...