| Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review. | |
| | |
MedLine Citation:
|
PMID: 8834049 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We report on a fetus with 47,XX,+15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 46,XX/47,XX,+15. Autopsy showed multiple abnormalities. Short-arm polymorphisms of the three number 15 chromosomes were highly informative in the delineation of parental origin and the stage of meiotic error. Using fluorescent in situ hybridization (FISH) with D15Z1 and a chromosome 15 painting probe, in addition to DA/DAPI and G-banding, we were able to show that the trisomic conceptus was derived through maternal meiosis I error. The trisomic state was then partially corrected by the loss of one of the two maternal 15s resulting in mosaicism without uniparental disomy (UPD). Striking differences in the proportion of trisomic cells in kidneys, blood, intestine, and skin, and lower proportions of trisomic cells in transformed and frozen than in fresh tissues, illustrate the continuing cell selection in this fetus in favour of the normal cell line. Trisomy 15 conceptions are usually aborted spontaneously in the first trimester of pregnancy. The longer survival of this fetus is most probably the result of a chromosome 15 loss from the trisomic zygote. To the best of our knowledge, the presence of this lethal trisomy has been reported in only five live-born infants, and in five fetuses including the present case, it was detected prenatally and the pregnancies were terminated. |
| | |
Authors:
|
V D Markovic; D A Chitayat; S M Ritchie; B A Chodakowski; E M Hutton |
Related Documents
:
|
17300689 - Fronto-nasal dysplasia and atrio-ventricular canal in a fetus with trisomy 18 identifie... 12872819 - Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female ... 2439909 - Screening for fetal down's syndrome in pregnancy by measuring maternal serum alpha-feto... 11555459 - Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter. 17582229 - Intrathoracic fluid may be a normal finding at around 8 gestational weeks. 11518829 - Twenty-four hours of mild hypothermia in unsedated newborn pigs starting after a severe... 20016189 - Plasma adrenomedullin levels during multiple pregnancy. 12017909 - Lifetime and current abuse, pregnancy risks, and outcomes among native american women. 10826579 - An epidemic of parvovirus b19 in a population of 3,596 pregnant women: a study of socio... |
Publication Detail:
|
Type: Case Reports; Journal Article; Review |
Journal Detail:
|
Title: American journal of medical genetics Volume: 61 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1996 Feb |
Date Detail:
|
Created Date: 1996-12-03 Completed Date: 1996-12-03 Revised Date: 2005-11-16 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 363-70 Citation Subset: IM |
Affiliation:
|
Biomedical Services and Research Division, Surrey Place Centre, Toronto, Ontario, Canada. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Chromosome Aberrations* Chromosome Disorders* Chromosomes, Human, Pair 15* Female Fetal Diseases Humans Male Mosaicism Pregnancy Trisomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a stro...
Next Document: Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the f...