Document Detail

Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases.
MedLine Citation:
PMID:  16674019     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Together with chromosome 19, chromosome 20 belongs to group F, the group of small metacentric chromosomes. Trisomy 20 mosaicism is one of the most frequent chromosomal mosaicisms, representing approximately 16% of prenatally diagnosed cases. In nonmosaic trisomy 20, the usual findings are severe and manifold. Only 3 cases in the literature involved fetuses surviving past the first trimester. CASES: In case 1, a 42-year-old woman presented in her sixth pregnancy; she had had 4 vaginal deliveries of term infants and a miscarriage. Both her familial and personal genetic histories were unremarkable. Genetic amniocentesis was performed in the 18th gestational week for advanced maternal age. Sample analysis revealed a normal, male karyotype in 27 mitoses, while 4 were trisomy 20 (46,XY [27]/47,XY, +20 [4]). In the 37th gestational week a live, immature, male infant weighing 1,730 g was delivered. Chromosomal investigation of the newborn's blood sample did not reveal trisomy 20 but a normal male karyotype. In case 2, a healthy 37-year-old nullipara underwent amniocentesis at the 18th week of pregnancy for advanced maternal age. Amniotic fluid cell karyotype revealed trisomy 20 (47,XX, +20). Ultrasonography performed simultaneously with genetic amniocentesis showed slightly shortened fetal long bones, detectable narrowing of the cranium in the region of the frontal bone, lateral ventricles of 10 mm in width bilaterally, echogenic bowel and polyhydramnios. Abortion was induced in the 23rd week of pregnancy, and a 490-g female fetus was delivered. CONCLUSION: Based on these 2 well-documented, prenatally diagnosed cases, as far as genetic counseling is concerned, nonmosaic trisomy 20 is much less challenging than its mosaic form since the prognosis is uniformly poor in the former.
József Gábor Joó; Artúr Beke; Ernö Tóth-Pál; Béata Hargitai; Zsanett Szigeti; Csaba Papp; Zoltán Papp
Related Documents :
23520489 - Incident pregnancy and time to death or aids among hiv-positive women receiving antiret...
8732559 - A normative study of obstetric complications associated with fetal trisomy 18.
8905899 - Placental mosaicism is associated with unexplained second-trimester elevation of mshcg ...
8434609 - Uniparental disomy for chromosome 16 in humans.
17582229 - Intrathoracic fluid may be a normal finding at around 8 gestational weeks.
19921649 - Recurrence risks for trisomies 13, 18, and 21.
15473129 - Effect of maternal malnutrition and anemia on the endocrine regulation of fetal growth.
15008899 - Population-based case-control teratologic study of topical miconazole.
17468429 - Effects of winter stocker growth rate and finishing system on: i. animal performance an...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of reproductive medicine     Volume:  51     ISSN:  0024-7758     ISO Abbreviation:  J Reprod Med     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-05-05     Completed Date:  2006-08-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0173343     Medline TA:  J Reprod Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  209-12     Citation Subset:  IM    
1st Department of Obstetrics and Gynecology, Faculty of General Medicine, Semmelweis University Medical School, Budapest, Hungary.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Chromosomes, Human, Pair 20 / genetics*
Genetic Counseling
Trisomy / genetics*,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Rupture of the preterm uterus in the nonlaboring woman: a report of 3 cases.
Next Document:  Successful dizygotic twin pregnancy after recryopreservation by vitrification of human expanded blas...