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2014 | 4 | 2 | 24-28
Tytuł artykułu

Double aneuploidy with karyotype 48,XXY,+18 in first trimester fetus - case report

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.
Słowa kluczowe
Wydawca

Czasopismo
Rocznik
Tom
4
Numer
2
Strony
24-28
Opis fizyczny
Daty
wydano
2014-06-01
otrzymano
2014-05-04
zaakceptowano
2014-06-27
online
2015-12-30
Twórcy
  • Department of Genetics, Research Hospital Polish Mother’s Memorial Hospital, lechdudarewicz@wp.pl
  • Department of Genetics, Research Hospital Polish Mother’s Memorial Hospital
  • Department of Genetics, Research Hospital Polish Mother’s Memorial Hospital
Bibliografia
  • 1. Bocian E. Prenatalna diagnostyka cytogenetyczna chorób genetycznych. Klasyczne metody i zasady oceny kariotypu. Med. Sci Rev - Genetyka 2004;1:27-33.
  • 2. Cnota W, Grolik B, Szołtysik-Szot M, Bloch R (et al.). Przezbrzuszna biopsja kosmówki w prenatalnej diagnostyce zaburzeń chromosomowych - doświadczenia własne. Ginekol Pol 2013; 84: 412-417.
  • 3. Gnyś-Wiercioch A, Bloch R, Grolik B (et al.). Analiza cytogenetyczna biopsji kosmówki - wady i zalety. Ginekol Pol 2012; 83:368-372.
  • 4. Weeraesekara K P, Anjana Sirisena A B. Coexisting Edwards syndrome and Klinefelter syndrome. Sri Lanka Journal of Child Health 2013;42(3):170-172.
  • 5. Jia-Woei Hou, MD, PhD, Chang Gung. Double Aneuploidy: Trisomy 18 and XXY in a Boy. Med J Vol. 29, No. 4
  • 6. Zhang L, Zhang X, Liang M, Ren M. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women. Chi Med J 2010;123(4):423-430.
  • 7. Reddy KS. Double trisomy in spontaneous abortion. Human Genetics 1997;101:339-345.
  • 8. Diego-Alvarez D, Ramos- Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin- Garcia E, Ayuso C, Lorda-Sanchez I. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod 2006;21(4):958-966.[Crossref]
  • 9. Harris RD1, Couto C, Karpovsky C, Porter MM, Ouhilal S. The chorionic bump: a first-trimester pregnancy sonographic finding associated with a guarded prognosis. J Ultrasound Med 2006;25(6):757-763.
  • 10. Sana Y, Appiah A, Davison A, Nicolaides KH, Johns J, Ross JA. Clinical significance of first-trimester chorionic bumps: a matched case-control study. Ultrasound Obstet Gynecol 2013;42(5):585-589.[Crossref]
  • 11. Chaoui R, Benoit B, Mitkowska-Wozniak H, Heling KS, Nicolaides KH. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2009;34:249-252.[WoS][Crossref]
  • 12. Bornstein E, Goncalves Rodríguez JL, Álvarez Pavón EC, Quiroga H, Or D, Divon MY. First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. J Ultrasound Med 2013;32(10):1863-1868.[WoS]
  • 13. Harper T, Fordham LA, Wolfe HM. The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging.Fetal Diagn Ther 2007;22(4):277-281. [Crossref][WoS]
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_12847_06144
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