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Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome
In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 and FRAXAC1 was recorded in the maternal meiosis. Follow up of the neonate confirmed the same DNA genotype as in the CVS, but the child died of DiGeorge syndrome after four days and was subsequently found to carry a microdeletion of chromosome 22 using probe cEO. It is suggested that in this family the deletion of chromosome 22 is likely to be a chance event but the rare recombinant and the fragile X mutation might be causally related
0022-2593
236-239
MacPherson, J.N.
ef609e90-d688-4129-894c-f841ab3f2c29
Curtis, G.
ae45c3b6-dbda-45c8-9634-bfdb6407165f
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Dennis, N.
154aa617-52e2-4711-98ef-89fef8610de7
Migeon, B.
f62d73ac-a65f-45d8-a955-308a5d7847fb
Grewal, P.K.
f2a16bef-e403-4ac4-9fe1-615740b1347a
Hirst, M.C.
932f200b-43f4-4912-b43a-3233f7639a68
Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49
MacPherson, J.N.
ef609e90-d688-4129-894c-f841ab3f2c29
Curtis, G.
ae45c3b6-dbda-45c8-9634-bfdb6407165f
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Dennis, N.
154aa617-52e2-4711-98ef-89fef8610de7
Migeon, B.
f62d73ac-a65f-45d8-a955-308a5d7847fb
Grewal, P.K.
f2a16bef-e403-4ac4-9fe1-615740b1347a
Hirst, M.C.
932f200b-43f4-4912-b43a-3233f7639a68
Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6
Jacobs, P.A.
32993834-5b30-4706-a09b-640baf848c49

MacPherson, J.N., Curtis, G., Crolla, J.A., Dennis, N., Migeon, B., Grewal, P.K., Hirst, M.C., Davies, K.E. and Jacobs, P.A. (1995) Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. Journal of Medical Genetics, 32 (3), 236-239. (PMID:7783179)

Record type: Article

Abstract

In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 and FRAXAC1 was recorded in the maternal meiosis. Follow up of the neonate confirmed the same DNA genotype as in the CVS, but the child died of DiGeorge syndrome after four days and was subsequently found to carry a microdeletion of chromosome 22 using probe cEO. It is suggested that in this family the deletion of chromosome 22 is likely to be a chance event but the rare recombinant and the fragile X mutation might be causally related

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Published date: March 1995
Organisations: Faculty of Health Sciences

Identifiers

Local EPrints ID: 366294
URI: http://eprints.soton.ac.uk/id/eprint/366294
ISSN: 0022-2593
PURE UUID: 21241c14-b6e0-4f29-8918-596e5b508ed9

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Date deposited: 07 Jul 2014 08:28
Last modified: 18 Oct 2017 12:50

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Contributors

Author: J.N. MacPherson
Author: G. Curtis
Author: J.A. Crolla
Author: N. Dennis
Author: B. Migeon
Author: P.K. Grewal
Author: M.C. Hirst
Author: K.E. Davies
Author: P.A. Jacobs

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