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Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case
- Source :
- Sikkema-Raddatz, B, Sijmons, R H, Tan-Sindhunata, M B, Van Der Veen, A Y, Brunsting, R, De Vries, B, Beekhuis, J R, Bekedam, D J, Van Aken, B & De Jong, B 1995, ' Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case ', Prenatal Diagnosis, vol. 15, no. 5, pp. 467-473 . https://doi.org/10.1002/pd.1970150510, Prenatal Diagnosis, 15(5), 467-473. John Wiley and Sons Ltd
- Publication Year :
- 1995
-
Abstract
- We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG‐banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.
- Subjects :
- Adult
Male
medicine.medical_specialty
Pregnancy, High-Risk
Prenatal diagnosis
Autopsy
Chromosomal translocation
In situ hybridization
Biology
Pregnancy
Prenatal Diagnosis
medicine
Humans
Genetics (clinical)
In Situ Hybridization, Fluorescence
Genetics
Gynecology
Chromosome Aberrations
Cytogenetics
Obstetrics and Gynecology
medicine.disease
Chorionic Villi Sampling
Karyotyping
Amniocentesis
Gestation
Fish
Female
Follow-Up Studies
Maternal Age
Subjects
Details
- Language :
- English
- ISSN :
- 01973851
- Volume :
- 15
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Prenatal Diagnosis
- Accession number :
- edsair.doi.dedup.....31b3f2d618154713efefa241af606e4c