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Summary
This summary is machine-generated.

Patau syndrome (trisomy 13) presents with variable features, often including facial clefts, eye defects, and polydactyly. This study highlights the wide phenotypic spectrum beyond the classic triad, emphasizing its impact on prenatal and perinatal mortality.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Patau syndrome, or trisomy 13, is a chromosomal disorder with an incidence of 1 in 10,000–20,000 live births.
  • The classic diagnostic triad includes cleft lip and palate, microphthalmia/anophthalmia, and postaxial polydactyly.
  • The most common cytogenetic abnormality is free trisomy 13 (80%), with rarer instances of mosaic trisomy or Robertsonian translocations.

Purpose of the Study:

  • To identify and characterize the phenotypic features of trisomy 13.
  • To investigate the variability in clinical presentation of Patau syndrome.

Main Methods:

  • A retrospective study of 14 cytogenetically confirmed trisomy 13 cases.
  • Data collected from January 2000 to December 2012 at lasi Medical Genetics Centre.

Main Results:

  • The study analyzed 14 cases, including fetuses, neonates, and infants.
  • Commonly observed anomalies included maxillary clefts (6/14), ocular abnormalities (8/14), postaxial polydactyly (7/14), scalp defects (6/14), congenital heart anomalies (10/14), holoprosencephaly (4/14), ear abnormalities (11/14), and broad nasal root (10/14).
  • The classic clinical triad was present in only one case, underscoring phenotypic variability.

Conclusions:

  • Patau syndrome exhibits significant variable expression.
  • The syndrome is characterized by abnormal prenatal development, including facial dysmorphia and severe heart and brain defects.
  • These severe birth defects contribute to increased in utero and perinatal mortality.