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A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation.

Abstract:

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for a fetus with multiple congenital anomalies but a normal male karyotype using conventional G-banding analysis on a mid-trimester placental biopsy. In a subsequent pregnancy, ...

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Publication status:
Published

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Authors


Brackley, KJ More by this author
Whittle, MJ More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
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Journal:
Prenatal diagnosis
Volume:
19
Issue:
6
Pages:
570-574
Publication date:
1999-06-05
DOI:
EISSN:
1097-0223
ISSN:
0197-3851
URN:
uuid:f8a5d3dd-4d2d-4154-9a15-65769ea269f4
Source identifiers:
37092
Local pid:
pubs:37092

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