Document Detail

Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues.
MedLine Citation:
PMID:  20722987     Owner:  NLM     Status:  MEDLINE    
We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16(th) week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20(th) week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24(th) week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3(rd) centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3-4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3(rd) centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality.
Vincenzo Mazza; Silvia Latella; Valentina Fenu; Paola Ferrari; Carlotta Bonilauri; Sandra Santucci; Antonio Percesepe
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-08-17
Journal Detail:
Title:  The journal of obstetrics and gynaecology research     Volume:  36     ISSN:  1447-0756     ISO Abbreviation:  J. Obstet. Gynaecol. Res.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-10-29     Completed Date:  2011-02-11     Revised Date:  2012-01-19    
Medline Journal Info:
Nlm Unique ID:  9612761     Medline TA:  J Obstet Gynaecol Res     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  1116-20     Citation Subset:  IM    
Copyright Information:
© 2010 The Authors. Journal of Obstetrics and Gynaecology Research © 2010 Japan Society of Obstetrics and Gynecology.
Department of Obstetrics and Gynaecology, University of Modena, Modena, Italy.
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MeSH Terms
Chromosomes, Human, Pair 22 / genetics
Infant, Newborn
Prenatal Diagnosis
Trisomy* / diagnosis,  genetics

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