Document Detail

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.
MedLine Citation:
PMID:  18498214     Owner:  NLM     Status:  MEDLINE    
We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revealed the cell line which was not detected at chorionic villus sampling. Based on this and previous reports, we suggest that in cases of a phenotypic discordance detected at ultrasound in the first trimester, it is advisable to perform a karyotype analysis on amniocytes because it better reflects fetal constitution rather than chorionic villi or lymphocytes in case of heterokaryotipic monosomy X monochorionic twins.
Barbara Gentilin; Silvana Guerneri; Vera Bianchi; Federica Natacci; Augusto Colombo; Roberto Fogliani; Renato Fortuna; Domenico A Coviello; Cristina Curcio; Faustina Lalatta
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Publication Detail:
Type:  Case Reports; Journal Article; Review; Twin Study    
Journal Detail:
Title:  Twin research and human genetics : the official journal of the International Society for Twin Studies     Volume:  11     ISSN:  1832-4274     ISO Abbreviation:  -     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-05-23     Completed Date:  2008-11-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101244624     Medline TA:  Twin Res Hum Genet     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  352-6     Citation Subset:  IM    
Clinical Genetic Unit, Dipartimento Salute della Donna, del Bambino e del Neonato, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.
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MeSH Terms
Cell Line
Chorionic Villi Sampling
Diseases in Twins / congenital,  genetics,  ultrasonography
Lymphangioma, Cystic / congenital,  genetics,  ultrasonography
Pregnancy, Multiple / genetics
Twins, Monozygotic / genetics*
Ultrasonography, Prenatal

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