The care of patients with trisomy 13 and 18 is a source of significant controversy. While
these conditions are life limiting, indisputable data refutes the notion that these conditions …

Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic
abnormality in growth and (re‐) modeling of cartilage and bone. A large subgroup of GSDs …

Introduction The objective of this report is to describe the first patient presenting clinical
features of trisomy 13 in association with a sacrococcygeal teratoma. Case presentation We …

Abstract Trisomy 13 (T13) was first described by Patau et al. in 1960. It is generally
considered to be lethal. It affects many systems. A review of the literature of T13 revealed …

Malformations of the eye, orbit, and adnexa are encountered in three forms. The most
common are of a relatively minor nature such as colobomata of the uveal tract and minor …

Trisomy 13 (Patau syndrome) is cytogenetically classified as a 47, XY,+ 13 or 47, XX,+ 13,
due to nondisjunction at meiosis I or II, or at mitosis (mosaicism), and partial trisomy due to …

Phenotypic variability is a noted feature of human trisomies. This is exemplified by the
presentation of trisomy 21 (Down syndrome). The incidence of and severity of clinical …

Se conoce a la trisomía 13 o Síndrome de Patau como la segunda aneuploidía más común
en los recién nacidos. Se ha estudiado ampliamente a lo largo de los años su asociación …

Trisomy is a chromosomal abnormality, characterized by the appearance of an extra
chromosome in the genetic material. Usually, human autosomal trisomies are not …

Trisomy 13 syndrome is a rare disorder that carries a high mortality rate due to abnormal
prenatal development resulting in serious birth defects. Although genitourinary …