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Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities
Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities
We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic examination, the fetus was found to have a male karyotype with 45 chromosomes with a dicentric chromosome, which appeared to consist of the long arms of chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ hybridization (FISH) unexpectedly showed that the derivative chromosome contained two interstitial blocks of chromosome 17 short arm sequences, totalling approximately 7 Mb, between the two centromeres. This effectively made the fetus monosomic for approximately 15 Mb of 17p without the concurrent trisomy for another chromosome normally seen following malsegregation of reciprocal translocations. It also illustrates the complexity involved in the formation of some structurally abnormal chromosomes, which can only be resolved by detailed molecular investigations
fluorescence, kidney, abnormalities, male, laboratories, in situ hybridization, umbilical cord, report, heart, arm, fetus, congenital, chromosomes, centromere, genetics, trisomy
1424-8581
166-169
Cockwell, A. E.
270dbf0d-4256-4f8f-b2d5-9de8bad1c30d
Maloney, V. K.
c6b2c782-880c-4a1c-b44a-48073cbba7f9
Thomas, N. S.
fd7cd6ac-c48b-4095-8237-afe08c3ca375
Smith, E. L.
b41c2f97-269c-4a50-ba95-830e823cc7df
Gonda, P.
686d7bcc-9c28-4994-b70f-f39566021433
Bass, P.
3c1b5eca-118b-4ea0-ab63-d545908af425
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Cockwell, A. E.
270dbf0d-4256-4f8f-b2d5-9de8bad1c30d
Maloney, V. K.
c6b2c782-880c-4a1c-b44a-48073cbba7f9
Thomas, N. S.
fd7cd6ac-c48b-4095-8237-afe08c3ca375
Smith, E. L.
b41c2f97-269c-4a50-ba95-830e823cc7df
Gonda, P.
686d7bcc-9c28-4994-b70f-f39566021433
Bass, P.
3c1b5eca-118b-4ea0-ab63-d545908af425
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c

Cockwell, A. E., Maloney, V. K., Thomas, N. S., Smith, E. L., Gonda, P., Bass, P. and Crolla, J. A. (2006) Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities. Cytogenetic and Genome Research, 112 (1-2), 166-169. (doi:10.1159/000087530). (PMID:16276107)

Record type: Article

Abstract

We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic examination, the fetus was found to have a male karyotype with 45 chromosomes with a dicentric chromosome, which appeared to consist of the long arms of chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ hybridization (FISH) unexpectedly showed that the derivative chromosome contained two interstitial blocks of chromosome 17 short arm sequences, totalling approximately 7 Mb, between the two centromeres. This effectively made the fetus monosomic for approximately 15 Mb of 17p without the concurrent trisomy for another chromosome normally seen following malsegregation of reciprocal translocations. It also illustrates the complexity involved in the formation of some structurally abnormal chromosomes, which can only be resolved by detailed molecular investigations

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More information

Published date: 2006
Keywords: fluorescence, kidney, abnormalities, male, laboratories, in situ hybridization, umbilical cord, report, heart, arm, fetus, congenital, chromosomes, centromere, genetics, trisomy

Identifiers

Local EPrints ID: 59583
URI: http://eprints.soton.ac.uk/id/eprint/59583
ISSN: 1424-8581
PURE UUID: 77d8d5a4-19c2-4e71-bb58-bdc6b8ceb122

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Date deposited: 04 Sep 2008
Last modified: 13 Mar 2019 20:30

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