title: SMA prenatal diagnosis: a modified protocol to help differentiation between deletions and gene conversion.
abstract: In SMA, unusual findings such as deletions restricted only to SMN1 exon 8, inspite of honozygous SMN1 exons 7-8 deletions in the family, may obscure final diagnosis. Application of a modified PCR procedure allowed discrimination between a deletion or a gene conversion event in a case of prenatal diagnosis.
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece. Electronic address: kkekou@med.uoa.gr.
authors.forename: K
authors.initials: K
authors.lastname: Kekou
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Sofocleous
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Konstantinidis
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: H
authors.initials: H
authors.lastname: Fryssira
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Mavrou
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: S
authors.initials: S
authors.lastname: Kitsiou
authors.affiliation: Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D000328:Adult; D054458:Amplified Fragment Length Polymorphism Analysis / Q000379:methods*; D004247:DNA / Q000032:analysis; D005260:Female; D005785:Gene Conversion; D017353:Gene Deletion; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein; D004247:DNA
keywords: Gene conversion; Prenatal; SMA; SMN1; SMN2