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Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy

Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy
Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy
We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34 year old female was referred for karyotyping because of a previous trisomy 21 pregnancy. Chromosome analysis of primary in situ cultures showed a karyotype of 47,XX, + 21[6]/46,XY[32]/46,XX[2]. Molecular testing demonstrated maternal cell contamination of the amniotic fluid sample and G-banded karyotyping of maternal blood showed that 3/200 cells had trisomy 21, consistent with the mother being a Down syndrome mosaic. A normal male baby with a 46,XY chromosome complement was delivered at 30 weeks. This case emphasises the need for close collaboration between cytogenetic and molecular genetics laboratories in resolving unusual cases of mosaicism.
letter, humans, artifacts, male, cells, cytology, culture, pregnancy, amniotic fluid, diagnosis, report, analysis, mothers, laboratories, adult, prenatal diagnosis, syndrome, down syndrome, blood, karyotyping, mosaicism, female, cultured, trisomy, genetics, amniocentesis
0197-3851
858-860
Street, Melissa L.
9bc29e99-1785-4704-b81f-4381f14e80c7
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Boyle, Tracy A.
50b0034d-25a4-4efd-9669-192b72e6b5da
Ellis, Katrina H.
ff4086ad-9dc6-49da-bb71-efb0d49b8108
Bullman, Hilary
dd727e9a-42ba-48d5-a7bc-499ff5c5e9f2
Homfray, Tessa
470a6fbc-989c-4db8-a65b-8c433a61c1c6
Street, Melissa L.
9bc29e99-1785-4704-b81f-4381f14e80c7
Barber, John C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Boyle, Tracy A.
50b0034d-25a4-4efd-9669-192b72e6b5da
Ellis, Katrina H.
ff4086ad-9dc6-49da-bb71-efb0d49b8108
Bullman, Hilary
dd727e9a-42ba-48d5-a7bc-499ff5c5e9f2
Homfray, Tessa
470a6fbc-989c-4db8-a65b-8c433a61c1c6

Street, Melissa L., Barber, John C.K., Boyle, Tracy A., Ellis, Katrina H., Bullman, Hilary and Homfray, Tessa (2007) Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy. Prenatal Diagnosis, 27 (9), 858-860. (doi:10.1002/pd.1782).

Record type: Article

Abstract

We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34 year old female was referred for karyotyping because of a previous trisomy 21 pregnancy. Chromosome analysis of primary in situ cultures showed a karyotype of 47,XX, + 21[6]/46,XY[32]/46,XX[2]. Molecular testing demonstrated maternal cell contamination of the amniotic fluid sample and G-banded karyotyping of maternal blood showed that 3/200 cells had trisomy 21, consistent with the mother being a Down syndrome mosaic. A normal male baby with a 46,XY chromosome complement was delivered at 30 weeks. This case emphasises the need for close collaboration between cytogenetic and molecular genetics laboratories in resolving unusual cases of mosaicism.

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More information

Published date: 7 June 2007
Keywords: letter, humans, artifacts, male, cells, cytology, culture, pregnancy, amniotic fluid, diagnosis, report, analysis, mothers, laboratories, adult, prenatal diagnosis, syndrome, down syndrome, blood, karyotyping, mosaicism, female, cultured, trisomy, genetics, amniocentesis

Identifiers

Local EPrints ID: 60266
URI: http://eprints.soton.ac.uk/id/eprint/60266
ISSN: 0197-3851
PURE UUID: b3e5fe65-a957-4a00-b204-995777b1fa15

Catalogue record

Date deposited: 08 Sep 2008
Last modified: 08 Jan 2022 16:04

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Contributors

Author: Melissa L. Street
Author: John C.K. Barber
Author: Tracy A. Boyle
Author: Katrina H. Ellis
Author: Hilary Bullman
Author: Tessa Homfray

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