Document Detail


Prenatal diagnosis of de novo unbalanced translocation 8p;21q using subtelomeric probes.
MedLine Citation:
PMID:  17100200     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report an unbalanced translocation involving chromosomes 8 and 21 in a fetus showing ultrasonographic abnormalities in the second trimester of pregnancy. A 41-year-old pregnant woman, gravida 1 para 0, was referred to the Genetics Clinic at the 16th week of gestation because of advanced maternal age and fetal pelvicaliectasis on ultrasonographic examination. Pregnancy had occurred following ICSI treatment. After genetic counseling amniocentesis was performed. Fetal karyotype analysis revealed a 46,XY,8p+ karyotype. Ultrasonographic examination was repeated at the 20th week of gestation and showed intrauterine growth retardation, ventriculomegaly, cerebellar structural abnormality and pelvicaliectasis. Chromosomes of both parents were normal. Molecular cytogenetic studies (FISH) using chromosome-specific subtelomere probes showed a terminal deletion of 8p and trisomy of the 21q subtelomeric region. Further analysis with Down Syndrome specific region probes revealed two signals. The couple decided to terminate the pregnancy. This is the first prenatally diagnosed case of unbalanced t(8p;21q) of de novo origin.
Authors:
F Ozkinay; H Kanit; H Onay; O Cogulu; C Gunduz; D Ercal; C Ozkinay
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  17     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2006  
Date Detail:
Created Date:  2006-11-14     Completed Date:  2007-02-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  315-20     Citation Subset:  IM    
Affiliation:
Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced
Adult
Amniocentesis
Chromosomes, Human, Pair 21 / genetics*
Chromosomes, Human, Pair 8 / genetics*
DNA Probes
Down Syndrome / diagnosis*,  genetics*
Female
Fetal Growth Retardation / diagnosis*,  genetics*
Genetic Counseling
Humans
Karyotyping
Pregnancy
Pregnancy Trimester, Second
Prenatal Diagnosis*
Telomere
Translocation, Genetic / genetics*
Chemical
Reg. No./Substance:
0/DNA Probes

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