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- W2014566823 abstract "<h3>Introduction</h3> Severe congenital ocular anomalies including microphthalmos, anophthalmos, and retinal dysplasia<sup>13,23,30-35,45</sup>have long been known to have association with other developmental abnormalities. The clinical pattern of what was possibly 13-15 trisomy was first described by Thomas Bartholin in 1657<sup>35,36</sup>as a monster without eyes. There are many cases which may be presumed to have represented this syndrome before 1960<sup>21</sup>when Patau et al established the chromosomal basis for it. Following the work of Lejeune et al in 1959,<sup>37</sup>the systematic counting of human chromosomes led to the establishment of three specific autosomal trisomy syndromes with clinical-cytogenetic correlation: 13-15 (Denver<sup>38</sup>system of nomenclature), also referred to as D,<sup>39</sup>or D<sub>1</sub>,<sup>7</sup>or Patau's syndrome; 17-18, or E trisomy, or Edwards syndrome; and 21 or G trisomy (mongolism or Down's syndrome). These trisomy syndromes are recognized clinically by a characteristic array of congenital deformities in" @default.
- W2014566823 created "2016-06-24" @default.
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- W2014566823 date "1965-10-01" @default.
- W2014566823 modified "2023-09-27" @default.
- W2014566823 title "Ocular Manifestations of 13-15 Trisomy" @default.
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- W2014566823 doi "https://doi.org/10.1001/archopht.1965.00970040489010" @default.
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