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Trisomy 13–15

Authors: A E, James; C L, Belcourt; L, Atkins; M L, Janower;

Trisomy 13–15

Abstract

In April 1960, Patau and others described a characteristic pattern of numerous anomalies associated with a trisomy in the 13–15 group (also known as D1 trisomy) (13). Although there have been over thirty published examples of trisomy 13–15, only brief mention of the disorder has been made in the radiological literature (1). After review of the radiographic features in our eight cases of trisomy 13–15, we felt that the pattern of radiologic abnormalities was diagnostic and could be differentiated from trisomy 18, cri du chat syndrome, and mongolism. Karyotype Patients with trisomy 13–15 have a basic number of 47 chromosomes with an extra chromosome in the medium-sized group (D, 13–15) that has the centromere toward one end (acrocentric) (2, 7) (Fig. 1). Trisomy 13–15 is generally thought to result from maternal nondisjunction (3, 6, 10). The similar clinical pattern of this trisomy suggests that the same genes on the same chromosomes are present in triplicate (5). Embryology The extra chromosome in the 13–...

Keywords

Chromosome Aberrations, Cri-du-Chat Syndrome, Heart Defects, Congenital, Embryology, Foot Deformities, Congenital, Infant, Newborn, Infant, Chromosome Disorders, Ear, Diagnosis, Differential, Child, Preschool, Intellectual Disability, Karyotyping, Hand Deformities, Acquired, Humans, Female, Eye Abnormalities, Down Syndrome, Digestive System Abnormalities, Chromosomes, Human, 13-15

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
20
Average
Top 10%
Top 10%
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