An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13

Pettersen, James C.; Koltis, Gordon G.; White, Michael J.; Optiz, John M.

doi:10.1002/ajmg.1320030209

Cited by 43 publications

(18 citation statements)

References 14 publications

(5 reference statements)

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“…To our knowledge, there has been no previous mention of any involvement of the thalamus and basal ganglia in studies dealing with anatomic defects and microscopic craniofacial anomalies in trisomy 13 patients [Pettersen et al, 1979;Sperber et al, 1989]. Perhaps this mineralizing vasculopathy with possible vascular compromise of the thalamus and basal ganglia may be a contributory factor to the poor outcome of these infants.…”

Section: Discussionmentioning

confidence: 79%

Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

et al. 1997

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We performed a retrospective review of all the infants diagnosed with trisomy 13 in our institution from 1982 to 1995 and evaluated the neurosonographic findings along with their clinical information and cytogenetic analysis. Nine babies were admitted with trisomy 13. Sonography of the head was performed on 4 patients, and demonstrated in all of them a linear, branching, echogenic pattern in the thalamus/basal ganglia. Doppler evaluation of the thalamus/basal ganglia was performed in 3 of the 4 cases and confirmed these linear echogenicities to be of vascular origin. This is the first study to evaluated the occurrence of this finding in a specific syndrome, namely trisomy 13.

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Section: Discussionmentioning

confidence: 79%

Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

et al. 1997

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“…The majority of these abnormal structures appear in the forelimb. Trisomy 13 has been characterized anatomically by the presence of a pectorodorsalis muscle, which is not normally seen in humans but is found in many nonhuman primates, and by reduction and absence of several muscles in the forelimb, including particularly absence of the palmaris longus and brevis, and absence or variation of the extensor indicis [Pettersen et al, 1979] (Table II). The reduction or absence of muscles has been interpreted as being related to their normal appearance late in development or to excessive resorption of muscle tissue when the deep and superficial layers are forming [Dunlap et al, 1986].…”

Section: Discussionmentioning

confidence: 99%

“…The findings in the trisomic infant include the presence of a supernumerary postaxial digit bilaterally, absence of the palmaris longus and brevis bilaterally, and in the right forelimb, presence of accessory slips of muscle between the flexor digitorum superficialis and profundus, between the tendon of the extensor pollicis longus and the extensor digitorum proprius, and from the first lumbrical to the first digit in addition to the normal insertion into digit II. Pettersen et al [1979] suggested that the identification of trisomy 13 can be based on six muscle variations, four of which occur in the forelimb: presence of the pectorodorsalis muscle, absence of the palmaris longus and brevis muscles, and absence or variation of the extensor indicis muscle. Presence of the pectorodorsalis muscle in humans is an example of an atavistic muscle discussed by Dunlap et al [1986], whereas absence of the palmaris longus and brevis and variation of the extensor indicis is observed not infrequently in nonhuman primates.…”

Section: Discussionmentioning

confidence: 99%

“…The extra digit had a well-formed nail, two phalanges, and one interphalangeal joint. Because abnormalities that might be attributed to the aneuploid state were of special interest in this study, the anatomical findings in the infant baboon's forelimbs were also compared with those reported in a study of eight cases of human trisomy 13 by Pettersen et al [1979] and five cases by Dunlap et al [1986] (Table II). Insertion on the distal phalanx of digit I of the tendon from the flexor digitorum profundus muscle (flexor pollicis longus muscle of the human) represents a deviation from the expression of the comparable human trisomy.…”

Section: Gross Anatomical Evaluation Of Forelimbsmentioning

confidence: 98%

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Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis

Moore

Hubbard

Dick

et al. 2007

American J Primatol

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Trisomy 13 in humans is the third most common autosomal abnormality at birth, after trisomy 21 and trisomy 18. It has a reported incidence of between 1:5,000 and 1:30,000 live births. It is associated with multiple abnormalities, many of which shorten lifespan. We describe here the first reported case of a baboon (Papio hamadryas) with trisomy of chromosome 17, which is homologous to human chromosome 13. The trisomic infant was born to a consanguineous pair of baboons and had morphological characteristics similar to those observed in human trisomy 13, including bilateral polydactyly in the upper limbs, a patent foramen ovale, and pyelectasis. Molecular DNA analysis using human chromosome 13 markers was consistent with the affected infant inheriting two copies of chromosome 17 derived from the same parental chromosome. This trisomy was, therefore, due to either an error in meiosis II or the result of postzygotic nondisjunction. The parental origin, however, could not be determined.

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“…In studies of the skeletal phenotype in trisomy 13 the anomalies most commonly described are wide anterior fontanelle, presence of a cervical rib, absence of the 12th rib, anomalies of rib morphology, low acetabular angles, and long distal phalanges [Patau et al, 1960;Mottet and Jensen, 1965;Snodgrass et al 1966;Taylor, 1968;Colacino and Pettersen, 1978;Pettersen et al, 1979;Jacobs et al, 1987;Keeling, 1994]. Malformations of the fifth finger and toe are frequent, and polydactyly has also been reported [Opitz et al, 1979;Gilbert and Opitz, 1982].…”

Section: Introductionmentioning

confidence: 99%

Pattern of malformations in the axial skeleton in human trisomy 13 fetuses

1997

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The purpose of this study was to analyse the development of the axial skeleton in human trisomy 13 fetuses and to define which fields in the axial skeleton are affected in this condition. We investigated nine human fetuses with trisomy 13 and gestational ages of 14-19 weeks. Whole body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In the youngest fetus, 14 w GA, no malformations were observed. In eight fetuses, 17-19 weeks GA, malformations occurred in the lumbosacral spine. In four fetuses additional malformations were observed in the thoracic spine. The study showed that there was a correspondence between the extent of malformation in the lumbosacral spine and the thoracic spine. When mild malformation occurred in the lumbosacral region, no malformation was observed in the thoracic region, whereas malformation was observed in the thoracic region when there was extensive malformation in the lumbosacral region. Malformations did not occur in the cervical spine or the basilar part of the occipital bone, but the postsphenoidal part of the sphenoid bone was small and irregular in the six cases where it could be examined. In seven fetuses there was malformation or agenesis of the nasal bone. This pattern of axial skeletal malformations in trisomy 13 fetuses was not described previously. Comparisons are made with previous studies of the fetal axial skeleton in trisomy 18 and trisomy 21, where the pattern of malformations was different. We reiterate our recommendation that axial skeletal radiography should be part of the postmortem examination of fetuses with suspected or verified chromosome abnormalities.

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An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13

Cited by 43 publications

References 14 publications

Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis

Pattern of malformations in the axial skeleton in human trisomy 13 fetuses

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