69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy

A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).     

Holoprosencephaly by triploidy 69 XXX in a 5 month old fetus]

Microcephaly, occipital meningocele, and uveal coloboma were observed in a 5-month-old fetus with a 69, XXX karyotype. Autopsy showed an holoprosencephaly, which has never before been reported in triploidy.     

Homogeneous triploidy in 2 premature infants (69 XXY)

Two new cases of 69 XXY triploidy in live-born neonates are reported. As in 40 others cases of literature observed after 24 weeks of gestation, this chromosome abnormality was lethal. The clinical features are: a large posterior fontanelle, low set ears, syndactylies of hands and feet, and genital abnormalities in the presence of a 69 XXY karyotype. The first patient present a macrocytosis of red blood cells. Macrocytosis, large polymorphonuclear leukocytes and platelets can evoke the diagnosis of triploidy in a malformed newborn.     

Five month extrauterine survival in a female triploid (69,XXX) child.

The case of a (69,XXX) triploid infant who survived 160 days is reported. Previously, the longest survival of a non-mosaic triploid had been 9 days. Possible reasons for this extensive survival are discussed.     

Long survival in a 69,XXX triploid infant in Greece

The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days. Chromosomal analysis demonstrated a 69,XXX karyotype with no evidence of mosaicism. This is the longest survival reported for this condition to date in Greece and the fourth longest worldwide. The infant was admitted to our clinic several times due to respiratory problems, and supplementary oxygen was required. The improved survival of our case was possibly due to better management of respiratory illness and prematurity, and these are essential factors that physicians should consider carefully with such rare cases.     

Occurrence of natural triploidy in Rhamdia quelen (Siluriformes, Heptapteridae)

Five specimens of Rhamdia quelen collected from the Lindóia Stream, PR, Brazil, were cytogenetically analyzed. The diploid chromosome number found was 58, including 30 metacentric, 16 submetacentric, 10 subtelocentric, and 2 acrocentric chromosomes. Supernumerary or B chromosomes, frequently observed in this fish group, were not detected. One of the individuals was triploid, with 3n = 87. A silver-stained nucleolar organizer region was found on a pair of submetacentric chromosomes of the diploid specimens, and on three chromosomes of the triploid individual, confirming triploidy. Treatment with fluorochrome chromomycin A(3) revealed fluorescent bands coincident with those of the silver-stained nucleolar organizer region, in both diploid and triploid individuals, showing that this is a GC-rich region. Heterochromatin distribution was visualized by the C-banding technique, mainly in the terminal chromosome regions of the individuals and was also observed in the pericentromeric regions of some chromosomes and at both telomeres.     

A review of trisomy X (47,XXX)

A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypoglycemic, fell into coma, developed seizures and sequels involving right hemi-body. Urinary excretion of hexanoylglycine and suberylglycine was low during this metabolic decompensation. A study of pre- and post-prandial blood glucose and ketones over a period of 24 hours showed a normal glycaemic cycle but a failure to form ketones after 12 hours fasting, suggesting a mitochondrial β-oxidation defect. Total blood carnitine was lowered with unesterified carnitine being half of the lowest control value. A diagnosis of mild MCAD deficiency (MCADD) was based on rates of 1-¹⁴C-octanoate and 9, 10-³H-myristate oxidation and of octanoyl-CoA dehydrogenase being reduced to 25% of control values. Other mitochondrial fatty acid oxidation proteins were functionally normal. De novo acylcarnitine synthesis in whole blood samples incubated with deuterated palmitate was also typical of MCADD. Genetic studies showed that the patient was compound heterozygous with a sequence variation in both of the two ACADM alleles; one had the common c.985A>G mutation and the other had a novel c.145C>G mutation. This is the first report for the ACADM gene c.145C>G mutation: it is located in exon 3 and causes a replacement of glutamine to glutamate at position 24 of the mature protein (Q24E). Associated with heterozygosity for c.985A>G mutation, this mutation is responsible for a mild MCADD phenotype along with a clinical story corroborating the emerging literature view that patients with genotypes representing mild MCADD (high residual enzyme activity and low urinary levels of glycine conjugates), similar to some of the mild MCADDs detected by MS/MS newborn screening, may be at risk for disease presentation.     

Cytogenetic and biochemical investigations on fibroblast cultures and clones with one and two active X chromosomes of a 69,XXY triploidy

Bromodeoxyuridine replication patterns showed that fibroblasts from a 69,XXY triploidy carried either one or two early replicating X chromosomes. The activity of alpha-galactosidase A measured in single cells fell into two classes with a ratio of 1:2. Dilute plating produced clones of both types with the activity of alpha-galactosidase A corresponding to the number of active X chromosomes. To our knowledge, this is the first report on clones of a triploidy with different numbers of active X chromosomes, and on a gene-dosage effect of an X-linked gene using triploid cells with one active X as control.     

Morphological,autoradiographic, immunochemical and cytochemical investigation of a cell strain with trisomy 7 from a spontaneous abortus

Summary A complex investigation of the phenotype of a stable strain of LHC—162 cells derived from a spontaneous abortus was carried out. The karyotype, of the strain was 47,XY,+C. The extra chromosome was identified by Giemsa staining as a No. 7. The strain was subjected to cytomorphological, autoradiographic, immunochemical and virological examination in comparison with diploid cell strains. The cells of the LHC—162 strain had no oncogenic activity. Their susceptibility to the three types of poliomyelitis virus did not differ from those of diploid strains. The growth of the LHC—162 cells was poorly organized, and they had a reduced capacity for the formation of histotypical structures. There was low collagen production, poor accumulation of lipid granules, high acid phosphatase, activity, and high glycogen content. Radioautographic investigation of cell cycle revealed lengthening of the mitotic cycle in the G₂, period which was twice as long as in diploid strains. Immunochemical investigation showed that fibroblasts of both trisomic and diploid strains synthesized proteins in ₁ and ₂ globulin zones. However, the synthesis of a protein in ₁ zone was considerably more intensive and in ₂ zone less intensive in the LHC—162 cells than in the diploid strain.The stability of these phenotypic features make it reasonable to assume that they represent a biological characteristic of the LHC—162 strain. It is suggested that this characteristic totality of phenotypical features can be considered as an expression of the C7 trisomic cell's differentiation confusion. It is suggested that the cellular syndrome, is not due only to this chromosomal aberration but also to other chromosomal aberrations.

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Zusammenfassung Es wurde eine Komplexuntersuchung, des Phenotypus der Zellen des stabilen Stammes LHC—162 (spontaner. Abortus) durchgeführt. Der Karyotyp der Zellen dieses Stammes ist 47,XY.+C. Das überzählige Chromosom wurde durch die Giemsa-Methode als C7 identifiziert. Der Karyotyp ist im Verlauf von 62 Passagen stabil geblieben., Die cytomorphologischen, autoradiographischen, immunochemischen Untersuchungen dieses Stammes wurden im Vergleich zu diploiden Stämmen, durchgeführt. Die Zellen dieses Stammes sind nicht krebsauslösend. Die Empfindlichkeit dieses Stammes gegenüber drei Polimyelitis-Virusstämmen ist nicht anders als die Empfindlichkeit des diploiden Stammes. Das Wachstum der Zellen des Stammes LHC—162 ist wenig organisiert; sie besitzen sehr wenig, Fähigkeit, eine histotypische Struktur zu formen; sie bilden wenig Kollagen, sie speichern zu wenig Lipidgranulan; in ihnen ist der Gehalt an Glykogen und die Aktivität von Phosphotasen zu hoch. Die radiographische Untersuchung des Zellcyclus hat gezeigt, daß die Zeit des mitotischen Cyclus der G₂-Periode vergrößert ist. Sie ist fast doppelt so lang wie bei dem diploiden Stamm. Bei der immunochemischen Untersuchung wurde entdeckt, daß der Stamm LHC—162 wie die diploiden Stämme Eiweiß-Komponenten in ₁- und ₂-Globulinzonen synthetisierte, aber der Stamm LHC—162 synthetisiert Eiweiß in der ₁-Globulinzone intensiver und Eiweiß in der Globulinzone ₂ schwächer als normale Zellen. Die Stabilität der, gefundenen phänotypischen Besonderheiten des Stammes LHC—162 läßt sie charakteristisch für diesen Stamm erscheinen. Diese charakteristische Gesamtheit der phänotypischen Eigenschaften kann man als Äußerung der gestörten Differenzierung der Zellen mit Trisomie C7 betrachten. Möglicherweise gibt es ähnliche Zellsyndrome auch für andere Chromosomenanomalien.

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The work was supported in part by research Grants HG-70/9684148 from Human Genetics Unit WHO.     

A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXY

Summary Steroid sulfatase (STS) and arylsulfatase C (ARSC) were studied in fibroblast clones from a 45,X/47,XXX mosaic and from a 69,XXY triploidy with one or two active X chromosomes. The comparison of the 47,XXX with 45,X clones showed an incomplete gene dosage effect (1.8 for STS and 2.0 for ARSC). This was not the case for the triploid clones with different X-inactivation patterns. These results confirm previous reports on the non-inactivation of the STS gene, and establish X linkage and non-inactivation for the ARSC gene as well.     

Late glacial and early Holocene palaeoenvironmental changes in Geneva Bay (Lake Geneva, Switzerland)

Detailed interdisciplinary investigations demonstrate that Geneva Bay (Lake Geneva) sediments clearly record important palaeoenvironmental and palaeoclimatic changes occurred during the Late glacial and early Holocene. Sediments are in fact differentiated by changes in texture, mineralogical and geochemical composition. Distal turbidite and glacial rhythmite deposition associated with wind-transported sediment supply dominate during the Oldest Dryas. These were replaced during the Allerød by detrital settling of sediment from turbid water and by endogenic calcite precipitation. The Younger Dryas climate reversal (for the first time in Lake Geneva well documented by a pollen record) was characterized by an increase in detrital supply owing to increased run-off from the bay slopes surrounding and within the catchment area, caused by thinning of vegetation cover. A brief pause in endogenic precipitation related to decreased productivity also occurs at this time. Endogenic carbonate sedimentation abruptly resumed at the start of the Preboreal biozone in response to the rapid global climatic warming. In the middle Preboreal, renewed detrital sedimentation is interpreted as the sedimentological response to increased erosion in high-altitude regions of the catchment area, caused by a minor early Holocene cooling phase (Preboreal oscillation), and interrupts the trend towards increasing endogenic calcite precipitation. Favourable limnic conditions are reached during the late Preboreal, when diatom–calcite rhythmites begin to form. Stable isotope analysis (δ¹⁸O, δ¹³C) in bulk carbonate highlight the transition from clastic-dominated to endogenic-dominated sedimentation. Endogenic calcite deposition continues during the Boreal biozone, occasionally interrupted by local high-energy sedimentary processes (wave-induced erosion and reworking of littoral deposits) enhanced by progressive lake-level lowering. During the Older Atlantic biozone, sedimentation was mainly dominated by low-energy deposition, creating enhanced conditions for the development of benthic fauna. We will discuss the factors that make Geneva Bay an important site for recording the Late glacial–Holocene climate and environmental changes. The comparison with other Swiss Plateau lacustrine systems allowed us to emphasize the role played by the particular geographical and morphological setting of the site investigated and links with climate-sensitive regions in the catchment area.