Fertility and sterility · 2008
Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
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Bertini Veronica, Valetto Angelo, Uccelli Angela, Tarantino Enrico, Simi Paolo
Аннотация
OBJECTIVE: To characterize a ring chromosome 21 found in an infertile woman and in her mother.
DESIGN: Case report.
SETTING: Molecular and cytogenetics unit in a university-affiliated hospital.
PATIENT(S): A 32-year-old infertile woman, presenting a normal female phenotype without clinical signs or major dysmorphisms.
INTERVENTION(S): Molecular cytogenetic analyses and genetic counseling.
MAIN OUTCOME MEASURE(S): Structure of chromosome ring 21 (r21) was better defined by fluorescent in situ hybridization and array comparative genomic hybridization.
RESULT(S): Proband chromosomal analysis detected a mosaicism with three cell lines: one with a chromosome ring 21 (94%), one 45,XX, -21 (4%), and one with a dicentric ring (2%). This ring was inherited from her mother, whose karyotype was 46,XX, r(21)/45,XX, -21 [98%, 2%]. In both cases, the ring breakpoint was in band 21q22.3, with a deletion of about 3.4 Mb.
CONCLUSION(S): When a new case of r(21) is found, an accurate molecular definition of the deletion extent is mandatory and prenatal diagnosis should be suggested in case of pregnancy. Even if a strict genotype-phenotype correlation is not easy, mainly owing to a paucity of molecularly defined cases and to the mosaicism problems, prenatal investigations allow excluding chromosome 21 nondisjunction or rearrangements of r(21) that can have a dramatic effect on the fetus phenotype.
DESIGN: Case report.
SETTING: Molecular and cytogenetics unit in a university-affiliated hospital.
PATIENT(S): A 32-year-old infertile woman, presenting a normal female phenotype without clinical signs or major dysmorphisms.
INTERVENTION(S): Molecular cytogenetic analyses and genetic counseling.
MAIN OUTCOME MEASURE(S): Structure of chromosome ring 21 (r21) was better defined by fluorescent in situ hybridization and array comparative genomic hybridization.
RESULT(S): Proband chromosomal analysis detected a mosaicism with three cell lines: one with a chromosome ring 21 (94%), one 45,XX, -21 (4%), and one with a dicentric ring (2%). This ring was inherited from her mother, whose karyotype was 46,XX, r(21)/45,XX, -21 [98%, 2%]. In both cases, the ring breakpoint was in band 21q22.3, with a deletion of about 3.4 Mb.
CONCLUSION(S): When a new case of r(21) is found, an accurate molecular definition of the deletion extent is mandatory and prenatal diagnosis should be suggested in case of pregnancy. Even if a strict genotype-phenotype correlation is not easy, mainly owing to a paucity of molecularly defined cases and to the mosaicism problems, prenatal investigations allow excluding chromosome 21 nondisjunction or rearrangements of r(21) that can have a dramatic effect on the fetus phenotype.