Literature DB >> 8606889

Trisomy 16 fetus surviving into the second trimester.

W Cusick1, M Bork, B Fabri, P Benn, J F Rodis, L Buttino.   

Abstract

A 27-year-old gravida 4, para 3 was found to have anhydramnios at 14 weeks' gestation following a size/date discrepancy noted at her routine prenatal visit. A detailed ultrasound revealed multiple fetal anomalies including congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys. Karyotype revealed trisomy 16 in 15/15 cells from a tissue specimen obtained from the fetal cord insertion site following elective pregnancy termination.

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Year:  1995        PMID: 8606889     DOI: 10.1002/pd.1970151115

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.

Authors:  P J Yong; I J Barrett; D K Kalousek; W P Robinson
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

Review 2.  Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Authors:  R Mishra; C S Paththinige; N D Sirisena; S Nanayakkara; U G I U Kariyawasam; V H W Dissanayake
Journal:  BMC Pediatr       Date:  2018-01-08       Impact factor: 2.125

3.  A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Authors:  Joshua Manor; Daniela Dinu; Mahshid S Azamian; Weimin Bi; Sandra Darilek; Seema R Lalani
Journal:  Am J Med Genet A       Date:  2021-06-01       Impact factor: 2.578

  3 in total

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