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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
authors.forename: J N
authors.initials: JN
authors.lastname: Macpherson
authors.forename: G
authors.initials: G
authors.lastname: Curtis
authors.forename: J A
authors.initials: JA
authors.lastname: Crolla
authors.forename: N
authors.initials: N
authors.lastname: Dennis
authors.forename: B
authors.initials: B
authors.lastname: Migeon
authors.forename: P K
authors.initials: PK
authors.lastname: Grewal
authors.forename: M C
authors.initials: MC
authors.lastname: Hirst
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002459:Cell Fusion; D002478:Cells, Cultured; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015342:DNA Probes; D004062:DiGeorge Syndrome / Q000235:genetics*; D005192:Family Health; D005260:Female; D005347:Fibroblasts; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008677:Metaphase; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016601:RNA-Binding Proteins / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000166:cytology; D014960:X Chromosome / Q000235:genetics*
chemical_list: D015342:DNA Probes; D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse