Literature DB >> 11113912

Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings.

U G Froster1, L C Horn, H Holland, S Strenge, R Faber.   

Abstract

A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. Copyright 2000 John Wiley & Sons, Ltd.

Entities:  

Mesh:

Year:  2000        PMID: 11113912     DOI: 10.1002/1097-0223(200012)20:12<992::aid-pd950>3.0.co;2-7

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation.

Authors:  D Ioannou; K G L Fonseka; E J Meershoek; A R Thornhill; A Abogrein; M Ellis; D K Griffin
Journal:  Chromosome Res       Date:  2012-06-29       Impact factor: 5.239

2.  Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.

Authors:  Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Pediatr Genet       Date:  2017-04-26

Review 3.  Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?

Authors:  Angie C Jelin; Katelynn G Sagaser; Katherine R Forster; Tochi Ibekwe; Mary E Norton; Eric B Jelin
Journal:  Prenat Diagn       Date:  2020-02-19       Impact factor: 3.050

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.