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

James N. Macpherson, Greta Curtis, John A. Crolla, Nick Dennis, Barbara R Migeon, Prabjit K. Grewal, Mark C. Hirst, Kay E. Davies, Patricia A. Jacobs

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)236-239
Number of pages4
JournalJournal of Medical Genetics
Volume32
Issue number3
StatePublished - Mar 1995
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Fragile X Syndrome
Chromosomes, Human, Pair 22
Genetic Recombination
Mothers
Mutation
Meiosis
X Chromosome
Prenatal Diagnosis
Reference Values
Fetus
Genotype
Newborn Infant
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Macpherson, J. N., Curtis, G., Crolla, J. A., Dennis, N., Migeon, B. R., Grewal, P. K., ... 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.

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. / Macpherson, James N.; Curtis, Greta; Crolla, John A.; Dennis, Nick; Migeon, Barbara R; Grewal, Prabjit K.; Hirst, Mark C.; Davies, Kay E.; Jacobs, Patricia A.

In: Journal of Medical Genetics, Vol. 32, No. 3, 03.1995, p. 236-239.

Research output: Contribution to journalArticle

Macpherson, JN, Curtis, G, Crolla, JA, Dennis, N, Migeon, BR, Grewal, PK, Hirst, MC, Davies, KE & Jacobs, PA 1995, 'Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome', Journal of Medical Genetics, vol. 32, no. 3, pp. 236-239.
Macpherson JN, Curtis G, Crolla JA, Dennis N, Migeon BR, Grewal PK et al. Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. Journal of Medical Genetics. 1995 Mar;32(3):236-239.
Macpherson, James N. ; Curtis, Greta ; Crolla, John A. ; Dennis, Nick ; Migeon, Barbara R ; Grewal, Prabjit K. ; Hirst, Mark C. ; Davies, Kay E. ; Jacobs, Patricia A. / Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. In: Journal of Medical Genetics. 1995 ; Vol. 32, No. 3. pp. 236-239.
@article{f2fa52dad82541baae5b12ae593ff4ef,
title = "Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome",
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.",
author = "Macpherson, {James N.} and Greta Curtis and Crolla, {John A.} and Nick Dennis and Migeon, {Barbara R} and Grewal, {Prabjit K.} and Hirst, {Mark C.} and Davies, {Kay E.} and Jacobs, {Patricia A.}",
year = "1995",
month = "3",
language = "English (US)",
volume = "32",
pages = "236--239",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "3",

}

TY - JOUR

T1 - Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome

AU - Macpherson, James N.

AU - Curtis, Greta

AU - Crolla, John A.

AU - Dennis, Nick

AU - Migeon, Barbara R

AU - Grewal, Prabjit K.

AU - Hirst, Mark C.

AU - Davies, Kay E.

AU - Jacobs, Patricia A.

PY - 1995/3

Y1 - 1995/3

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0028938304&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028938304&partnerID=8YFLogxK

M3 - Article

C2 - 7783179

AN - SCOPUS:0028938304

VL - 32

SP - 236

EP - 239

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 3

ER -