| Two novel familial balanced translocations t(8;11)(p23;q21) and t(6;16)(q26;p12) implicated in recurrent spontaneous abortion. | |
| | |
MedLine Citation:
|
PMID: 22424046 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent spontaneous abortions (RSA) following their separate non-consanguineous marriages. Initial cytogenetic studies were performed on cultured blood cells. High resolution GTG-banding analysis using cytovision software performed on their chromosomes revealed a novel balanced translocation t(8;11)(p23;q21) in a brother (45 years) and his sister (27 years) in one family. The second novel balanced translocation t(6;16)(q26;p12) was observed in a consanguineous couple with 4 RSA. These two families have an increased risk of having children with unbalanced karyotypes or RSA, because of incorrect chromosomal segregation during meiosis. |
| | |
Authors:
|
Fatemeh Keify; Narges Zhiyan; Farzaneh Mirzaei; Semiramis Tootian; Saeedeh Ghazaey; Mohammad R Abbaszadegan |
Related Documents
:
|
3962516 - Duodenal duplication--a case with special features. 18342596 - Direct tandem duplication in chromosome 19q characterized by array cgh. 22633946 - Genome-wide linkage analysis of obsessive-compulsive disorder implicates chromosome 1p36. 11746026 - De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with... 7536936 - Xce haplotypes show modified methylation in a region of the active x chromosome lying 3... 3336376 - Induction of translocations in mouse spermatogonia after fractionated exposure to 60co ... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Archives of Iranian medicine Volume: 15 ISSN: 1735-3947 ISO Abbreviation: Arch Iran Med Publication Date: 2012 Apr |
Date Detail:
|
Created Date: 2012-03-19 Completed Date: 2012-06-13 Revised Date: 2013-05-15 |
Medline Journal Info:
|
Nlm Unique ID: 100889644 Medline TA: Arch Iran Med Country: Iran |
Other Details:
|
Languages: eng Pagination: 249-52 Citation Subset: IM |
Affiliation:
|
Pardis Clinical and Genetics Laboratory, Mashhad, Iran. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abortion, Spontaneous
/
genetics* Adult Chromosome Banding Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 8 Female Humans Karyotype Male Middle Aged Pedigree Phenotype Recurrence Translocation, Genetic* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Liver involvement in melamine-associated nephrolithiasis.
Next Document: Bilateral psoas abscess: atypical presentation of spinal tuberculosis.