Fertility and sterility · 2003
Fertility in a female with mosaic trisomy 8.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Rauen Katherine A, Golabi Mahin, Cotter Philip D
Аннотация
OBJECTIVE: To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism.
DESIGN: Case report.
SETTING: University department.
PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX,+8[17]/46,XX[83].
INTERVENTION(S): Cytogenetic analysis and genetics evaluation of the proband and her child.
MAIN OUTCOME MEASURE(S): The first successful pregnancy in a phenotypically abnormal trisomy 8 patient.
RESULT(S): The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. Cytogenetic analysis of the child showed a 46,XX karyotype.
CONCLUSION(S): Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.
DESIGN: Case report.
SETTING: University department.
PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX,+8[17]/46,XX[83].
INTERVENTION(S): Cytogenetic analysis and genetics evaluation of the proband and her child.
MAIN OUTCOME MEASURE(S): The first successful pregnancy in a phenotypically abnormal trisomy 8 patient.
RESULT(S): The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. Cytogenetic analysis of the child showed a 46,XX karyotype.
CONCLUSION(S): Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.
Предметные рубрики MeSH
AdultAmniocentesisChorionic GonadotropinChromosomes, Human, Pair 8ClubfootCraniofacial AbnormalitiesEstriolFemaleHearing Loss, BilateralHumansInfant, NewbornKaryotypingMosaicismObstetric Labor, PrematurePregnancyPregnancy ComplicationsPregnancy OutcomeTrisomyUltrasonography, Prenatalalpha-Fetoproteins