Prenatal diagnosis · 2005
Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Redaelli Serena, Sala Elena, Roncaglia Nadia, Colombo Carla, Crosti Francesca, Villa Nicoletta, Tagliabue Paolo, Cappellini Anna, Dalprà Leda
Аннотация
OBJECTIVES: To correlate confined placental mosaicism (CPM) for trisomy 15 with severe intrauterine growth restriction (IUGR) and early death after birth (age of 6 months).
METHODS: Chromosome analysis was performed on amniotic fluid at 21st week of gestation, on peripheral blood at birth and on fibroblasts at death using conventional techniques. FISH was performed with Chromoprobe I-Multiprobe System kit and commercial probes according to manufacturer's protocol. DNA was extracted from parental and child peripheral blood, placenta tissue and skin fibroblasts, and UPD tests were done with microsatellites selected from Genome Data Base.
RESULTS: The child presented severe hypospadias, micropenis, bilateral cryptorchidism and bifid scrotum, inguinal hernia, dolichomegacolon, severe thymic lymphatic depletion and heart hypertrophy, mainly involving right ventricle. Mosaic trisomy 15 (84%) was discovered by FISH on placental biopsy at term. Uniparental disomy (UPD) for chromosome 15 was excluded. Prenatal (amniotic fluid), postnatal (peripheral blood) karyotypes and analysis on skin fibroblast metaphases were normal. Since the autopsy showed some features suggesting genetic syndromes, such as CATCH22, Williams-Beuren syndrome, matUPD2, we excluded the presence of all these diseases.
CONCLUSIONS: The only explanation for this clinical case seems to be the presence of tris15CPM that is reported as one of IUGR causes.
METHODS: Chromosome analysis was performed on amniotic fluid at 21st week of gestation, on peripheral blood at birth and on fibroblasts at death using conventional techniques. FISH was performed with Chromoprobe I-Multiprobe System kit and commercial probes according to manufacturer's protocol. DNA was extracted from parental and child peripheral blood, placenta tissue and skin fibroblasts, and UPD tests were done with microsatellites selected from Genome Data Base.
RESULTS: The child presented severe hypospadias, micropenis, bilateral cryptorchidism and bifid scrotum, inguinal hernia, dolichomegacolon, severe thymic lymphatic depletion and heart hypertrophy, mainly involving right ventricle. Mosaic trisomy 15 (84%) was discovered by FISH on placental biopsy at term. Uniparental disomy (UPD) for chromosome 15 was excluded. Prenatal (amniotic fluid), postnatal (peripheral blood) karyotypes and analysis on skin fibroblast metaphases were normal. Since the autopsy showed some features suggesting genetic syndromes, such as CATCH22, Williams-Beuren syndrome, matUPD2, we excluded the presence of all these diseases.
CONCLUSIONS: The only explanation for this clinical case seems to be the presence of tris15CPM that is reported as one of IUGR causes.