Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome).
The ocular pathology in eight patients with trisomy 13 (Patau syndrome) is discussed and compared with the undisturbed development of the eye.
Abnormalities, Multiple↗
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Sleep and EEG features of newborns with 18 and 13 trisomy syndromes.
Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in the sleep profile characteristic of 18 or 13 trisomy syndrome. These infants had some difficulty in organizing a stable sleep cycle especially during the immediate neonatal period. There was poor correlation between EEG patterns and states. After one to two weeks, cyclic organization of sleep showed some tendency towards normalization, although there were more trace alternant and fewer high voltage slow patterns in quiet sleep even around and after 44 weeks conceptional age. Other abnormal features of sleep often observed were an increase of indeterminate sleep, a decrease of quiet sleep, and an increase or decrease of active sleep in some records.
Cerebral Cortex↗
[Trisomy 13 syndrome (Patau syndrome), trisomy 18 syndrome (Edwards syndrome), Down syndrome (trisomy 21 syndrome), Turner syndrome (XO gonadal dysgenesis)].
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Chromosome Aberrations↗
[Eye developmental defects in Patau's syndrome (trisomy 13)].
The paper analyses results of pathomorphologic studies of eyes of 28 fetuses and newborns died from multiple malformations due to the Patau (trisomy 13) syndrome. Ocular malformations were recorded in 25 observations (89%). The most frequent and typical ocular malformations in this syndrome were microphthalmia, typical colobomas of the uveal tract, dysplasia of the retina, persistence and hyperplasia of the primary vitreous body, cataract and luxation of the lens.
Abnormalities, Multiple↗
Unusual mosaicism of de novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome.
A body with the 13 trisomy syndrome was found to have a unique form of mosaicism in which each of the two cell lines had different structural rearrangements. The predominant cell line was partially trisomic for the distal portion of the long arm of chromosome 13, while the minor cell line was trisomic for all of the long arm of 13. The patient is also unusual because he had congenital glaucoma and was still alive at 10 years.
Child↗
Bilateral, perisylvian and rolandic cortical dysplasia in trisomy 13 syndrome.
In patients with the trisomy 13 syndrome the most commonly encountered brain anomaly is holoprosencephaly, which occurs in approximately 80% of cases. In trisomy 13 patients without holoprosencephaly, previously reported anomalies include callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and cerebellar dysplastic changes such as vermian hypoplasia and dysplastic cortices. Dysplasia of the cerebral cortex, however, has not been reported before. We describe a newborn with bilateral, dysplastic cortices at the perisylvian and rolandic regions. These dysplastic cortices probably accounted for the clinical findings of seizures, oromotor dysfunction, dystonia flexion contractures in the hands, which were consistent with a recently described syndrome labelled as the "congenital bilateral perisylvian syndrome".
Agenesis of Corpus Callosum↗
The pathology of trisomy 13 syndrome. A study of 12 cases.
Anatomical and histopathological findings in 12 cases of trisomy 13 syndrome (nine with classic full trisomy and three with trisomy 13 and an unbalanced Robertsonian 13/13 translocation) are reported. Emphasis is on the brain defects, cardiovascular anomalies, and histological organ dysplasia. Eight patients showed abnormal development of the forebrain and midline facial structures (holoprosencephaly). Cardiovascular malformations were invariably present, the leading malformation being an infundibular ventricular septal defect often in combination with dextroposition of the aorta and abnormalities of the semilunar valves. Histological abnormalities giving evidence of organ dysplasia were observed in the central nervous system, eyes, pancreas, kidneys, and ovaries. Mild cystic renal dysplasia was a constant feature. Foci of persistent nodular renal blastema were found in six cases. The pancreatic dysplasia appears to be pathognomonic for trisomy 13. These observations illustrate the importance of pathological studies in the recognition of chromosome abnormalities and, more specifically, of trisomy 13 syndrome. Based on autopsy data, trisomy 13 can be diagnosed - or ruled out - with certainty, even in the absence of karyotyping.
Abnormalities, Multiple↗
Recognizing the clinical features of Trisomy 13 syndrome.
Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic guide to physical assessment and photographs to enhance recognition of this genetic disorder. The principles of numerical chromosomal abnormalities as related to trisomies are reviewed. An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in infants with Trisomy 13. The embryology and implications of holoprosencephaly are described. A discussion of antenatal diagnosis of Trisomy 13 and delivery room management is also provided. The diagnosis of Trisomy 13 is confirmed antenatally or after delivery with genetic testing. Prognosis of infants with Trisomy 13 and implications for the infants development are described.
Abnormalities, Multiple↗
Pseudo-trisomy 13 syndrome.
We have coined the term "pseudo-trisomy 13 syndrome" to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. Eleven instances are summarized. Two pairs of sibs and two other cases with consanguinity suggest autosomal recessive inheritance. Autosomal recessive inheritance is possible. Alternately, an undetected microdeletion and etiologic heterogeneity (some cases possibly representing dominant new mutations) must be considered. Further delineation is necessary. It is hoped that this paper will serve as a focus for further discussion of the problem.
Abnormalities, Multiple↗
Trisomy 13 syndrome and neural tube defects.
Abnormalities of the CNS, such as arhinencephaly or holoprosencephaly, are common findings in trisomy 13 syndrome. However, neural tube defects (NTDs) are rarely reported. A review of 267 patients in the literature on reported CNS developmental defects in trisomy 13 syndrome showed only 6 patients with lumbosacral NTDs. No case of encephalocele or anencephaly was found. We report on 3 patients with spina bifida from the records of 34 necropsies of karyotyped trisomy 13 syndrome, which were found among 403,710 births.
Abnormalities, Multiple↗
Posterior vortex vein and congenital glaucoma in a patient with trisomy 13 syndrome.
A 4-month-old infant boy presented with a mild manifestation of trisomy 13 syndrome. The severe ocular findings usually associated with this syndrome were not seen. Rather, the patient had bilateral congenital glaucoma with glaucomatous optic disk cupping and, in one eye, a posterior vortex vein. Such findings are unusual in the trisomy 13 syndrome. The posterior vortex vein is a particularly unusual finding previously occurring in myopic eyes.
Chromosomes, Human, 13-15↗
Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome.
In a female newborn with the clinical and postmortem findings of Pätau's syndrome no trisomy 13 could be found by chromosomal investigation. Rather, the karyotype 45,XX,-11,-22,+(11;22) (p15;q11) was ascertained by GTG-,RFA-and TFA-banding. The long arm of one chromosome 22 is translocated upon the short arm of one chromosome 11, and the remaining part of the derivative chromosome 22 is lost. The child therefore is monosomic for 22pter leads to q11 and probably for the telomeric region of 11p15. Since both parents possess normal karyotypes, it is a de novo translocation. The case in point illustrates that the more correlation of a given phenotype to a specific karyotype is not possible in all cases.
Chromosomes, Human, 13-15↗
[Analysis of the relative rates of synthesis of G gamma and A gamma globin chains in the erythropoietic bursts in patients with trisomy 13 syndrome].
To clarify the pathogenesis of fetal-like erythropoiesis including high levels of Hb F observed in trisomy 13 syndrome, we examined the biosynthesis rates of G gamma and A gamma globin chains in the erythropoietic bursts cultured from the peripheral blood mononuclear cells of 3 patients aged 1-month-, 2-month and 7-month-old. Globin chains were labeled with 14C-amino acids, separated by isoelectric focusing and quantitated by autoradiography. The synthesis rates of gamma-chains in the erythropoietic bursts were between 83% and 88%. The Gr:A gamma ratios were similar to the synthesis ratio (0.71) of fetal liver BFU-E (12-wk gestation). Furthermore, the G gamma values in the bursts of the patients were in agreement with the G gamma:A gamma ratios in their circulating red blood cells (0.70, 0.71 and 0.67). These results suggest that the erythropoiesis associated with high levels of Hb F in trisomy 13 syndrome is controlled by erythropoietic precursor cells, in which normal switchings of G gamma:A gamma ratio and from Hb F to Hb A have not occurred.
Alanine↗
Pseudo-trisomy 13 syndrome: report of one case.
A new syndrome associated with holoprosencephaly, midline facial defects and postaxial polydactyly but normal chromosomes was described. The term "pseudo-trisomy 13 syndrome" was used because of the resemblance to trisomy 13. Only a few cases have appeared in the literature, and this is the first chinese case.
Abnormalities, Multiple↗
Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.
We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.
Arm↗
Eye findings in the 13 trisomy syndrome.
The gross and microscopic eye findings in the first historic case of the 13-trisomy syndrome included: severe microphthalmia, coloboma of the ciliary body, cataracts, detached retina, and retinal dysplasia.
Cataract↗
Temporal bone histopathological findings in trisomy 13 syndrome.
This study reports the histopathological findings of 14 temporal bones from infants with trisomy 13 syndrome. The most primitive anomalies in the structures of the inner and middle ears in the present series are those of the semicircular canals, particularly of the horizontal canals: flattened horizontal canal cristae, absence or opening of the utricular endolymphatic valve, small facial nerve, and obtuse angle of the geniculate area of the facial nerve. Each ear demonstrated more than one of those anomalies. The anomalies present features similar to those found in the structures of the normal six to ten-week fetus. Many other mild anomalies observed appear to demonstrate features similar to those seen in the same structures in later fetal life. Reviewing these findings, most of the anomalies that were found in the inner and middle ears appear to be the result of poor development of the structures for reasons which are now unclear. In addition, middle ear infection was found in all cases.
Abnormalities, Multiple↗
Dental management of an adolescent with trisomy 13 syndrome: a case report.
This first fully documented dental case report reviews the medical aspects of trisomy 13, summarizes the dental literature on this topic, and describes the dental findings and treatment of a 16-year-old female long-term survivor.
Abnormalities, Multiple↗