Literature DB >> 27309155

Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses.

Cihan Inan1, N Cenk Sayın1, Emine Atlı2, Selma Ulusal2, Selen Erzincan1, Isil Uzun1, Hakan Gurkan2, Füsun G Varol1.   

Abstract

Tetrasomy 18p, characterized by the presence of four copies of the short arm of chromosome 18, is considered to occur with the nondisjunction in meiosis II after the errors in the meiotic and early postmeiotic mitotic division in the centromere. It is accompanied by various abnormalities including congenital heart defects, lower extremity abnormalities, micrognathia, high arched palate, kyphoscoliosis, microcephaly, myelomeningocele, hernia and renal anomalies. We present the first case of a dichorionic diamniotic twin pregnancy in which both fetuses were affected by tetrasomy 18p, but with discordant morphology, detected in one twin in the first but in the other in the second trimester.

Entities:  

Keywords:  monozygotic twins; prenatal diagnosis; tetrasomy 18p

Mesh:

Year:  2016        PMID: 27309155     DOI: 10.1080/15513815.2016.1188870

Source DB:  PubMed          Journal:  Fetal Pediatr Pathol        ISSN: 1551-3815            Impact factor:   0.958


  1 in total

1.  A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.

Authors:  Pavlos Fanis; Elisavet Efstathiou; Vassos Neocleous; Leonidas A Phylactou; Adamos Hadjipanayis
Journal:  J Genet       Date:  2019-03       Impact factor: 1.166

  1 in total

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