Tooth crown size in 46, X, i (Xq) human females

Permanent tooth crown sizes of six Finnish females with a 46, X, i(Xq) chromosome constitution (isochromosome for the long arm of the X chromosome) were measured from dental casts and compared with those of normal women, first-degree female relatives and 45, X females. Crown diameters of the 46, X, i(Xq) females were not only smaller than in the normal women but even smaller than the 45, X females. These findings can be considered indirect evidence that X chromosome gene(s) for tooth crown growth are most probably located on the short arm.     

Root growth in the permanent teeth of 45,X/46,XX females

Studies on individuals with sex chromosome anomalies have provided proof of a direct differential promoting effect of the X and Y chromosome genes on tooth crown growth. 45,X/46,XX females are one subgroup of Turner patients who have both normal XX and one X sex chromosome cell lines. Their permanent tooth crown size is reduced, which is mainly due to thin enamel. 45,X females likewise show reduced crown size and enamel thickness, and their root size is reduced. By contrast, the lengths of the roots in 47,XYY males or males with an extra Y chromosome and 46,XY females or females with a male sex chromosome constitution are increased. The aim of the present study was to investigate permanent tooth root lengths in 45,X/46,XX females to obtain additional information on their dental growth. The study group consisted of 15 45,X/46,XX females, mean age 23.4 years; 10 female relatives, mean age 24.5 years; and 47 population control females, mean age 29.8 years, from the Kvantti research project. Root length measurements were made from panoramic radiographs on both sides of the jaw using a sliding digital calliper. The results showed that permanent tooth root lengths in 45,X/46,XX females were, in most cases, significantly shorter than those of the population controls or relatives. It is apparent that a reduced tooth crown size in 45,X/46,XX females is followed by reduced root growth. This begins 3 years after birth and continues to at least 14 years of age. It is suggested that the reduction in crown and root growth in 45,X/4,XX females is due to a deficiency in the amount of dental growth-promoting genes on the sex chromosomes.     

Effect of 45,X/46,XX mosaicism on root morphology of mandibular premolars.

The effect of X chromosome mosaicism on root morphology of mandibular premolars was studied in 14 females with 45,X/46,XX chromosome constitution. Occurrences of two-rooted premolars and the morphology of the roots were examined from orthopantomograms. Six (43%) of the 45,X/46,XX mosaics had two-rooted mandibular premolars. Two-rooted first premolars were found in four (29%) and second premolars in three (21%); in one, all four mandibular premolars were two-rooted. The results indicate that the frequency of two-rooted mandibular premolars was similar in 45,X/46,XX mosaics and in 45,X females, and in both groups significantly higher than in normal 46,XX females. Compared with 45,X females, the 45,X/46,XX mosaics showed a slight tendency toward more simplified root morphology in the first premolars. The findings suggest that the presence of normal 46,XX cells among the defective 45,X cells does not affect the development of the mandibular premolar roots. Furthermore, the results do not support the earlier proposal that the presence of normal 46,XX cells in 45,X/46,XX mosaic individuals would be reflected in gradual normalization of dental development.     

Crown heights in the permanent teeth of 45,X and 45,X/46,XX females

Objective. Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. Materials and methods. The material, from the Finnish KVANTTI Research Project, consisted of 97 45,X females and 15 45,X/46,XX females. The controls were 32 sisters and 28 mothers of the 45,X females, eight sisters and two mothers of the 45,X/46,XX females and 35 female population controls. Crown heights of all the available teeth except third molars on both sides of the jaws were measured from panoramic radiographs with a digital calliper according to the defined procedure. Results. The tooth crown heights were significantly smaller in the 45,X females than in the female population controls, except for the incisors and one canine in the maxilla, whereas the tooth crown heights of the 45,X/46,XX females were close to those of the normal control females. The differences between the 45,X and 45,X/46,XX females were statistically significant, excluding the upper incisor area and a few teeth in the mandible. Conclusions. The effect of the sex chromosome deficiency on permanent tooth crown height is due to the magnitude of lacking sex chromosome material. The present results regarding the 45,X females are parallel to previous findings in Turner patients regarding reduced mesiodistal and labiolingual dimensions and tooth crown heights in the permanent dentition.     

Root lengths in the permanent teeth of 45,X females

Abstract

Objective. Studies in permanent and deciduous tooth crowns and permanent tooth roots in individuals with sex chromosome anomalies and in their relatives have given proof that the X chromosome affects enamel formation, root length and crown and root morphology. The present research studies the effects of sex chromosome deficiency on the development of permanent tooth root. Materials and methods. This research investigated tooth root lengths in a group of 97 45,X females. As controls there were 32 sisters and 28 mothers of the 45,X females, 45 female and 42 male population controls and 15 45,X/46,XX females from the KVANTTI research project. Tooth root lengths on both sides of the jaws were measured from panoramic radiographs in each acceptable instance. Results. The results showed significantly shorter tooth root lengths in the 45,X females than in the female and male controls in all teeth measured, whereas in the female relatives tooth root lengths were shifted towards the aneuploids in relation to that in the general population. The tooth root lengths in the 45,X females differed more from those found in their sisters than in their mothers. Conclusions. These results with the large pure sample size of the whole dentitions in patients with monosomy X confirm the earlier findings of short tooth roots in 45,X females. The fact that in most instances there were no significant differences in tooth root lengths between 45,X and 45,X/46,XX females comes close to the earlier findings regarding mesio-distal tooth crown sizes.     

Dentofacial morphology in Turner syndrome karyotypes

The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from G?teborg, Uppsala and Ume? were participating. Cephalometric analysis, cast model analysis concerning palatal height, dental arch morphology and dental crown width were performed. Eighteen primary teeth were analysed in polarized light microscopy, scanning electron microscopy, microradiography and X-ray microanalysis were performed. The TS females were divided according to karyotype into: 1 45,X; 2 45,X/46,XX; 3 isochromosome; 4 other. Compared to healthy females, TS were found to have a flattened cranial base as well as small and retrognathic jaws with a posterior inclination. The maxillary dentoalveolar arch was narrower and longer, while the mandibular dental arch was wider and longer in TS compared to controls. The palatal height did not differ comparing TS and healthy females. The dental crown width was smaller in TS for both permanent and primary teeth. Aberrant elemental composition, prism pattern and lower mineral density were found in TS primary enamel compared to enamel in primary teeth from healthy girls. Turner syndrome karyotype was found having an impact on craniofacial morphology, with the mosaic 45,X/46,XX exhibiting a milder mandibular retrognathism as well as fewer cephalometric variables differing from controls compared to other karyotypes. Also for the dentoalveolar arch morphology the 45,X/46,XX group had fewer variables differing from healthy females. The isochromosome TS group exhibited the smallest dental crown width for several teeth, while 45,X/46,XX hade the largest dental crown with for some teeth and fewer teeth than both 45,X and isochromosomes that differed from controls. Thus, the mosaic 45,X/46,XX seemed to exhibit a milder phenotype, possibly due to presence of healthy 46,XX cell lines.     

Root lengths in the permanent teeth of Klinefelter (47,XXY) men

Earlier studies on human teeth have provided proof of an expression of the X and Y chromosome genes in tooth crown growth. The Y chromosome promotes the growth of permanent tooth crown enamel and dentin, whereas the effect of the X chromosome seems to be restricted mainly on enamel formation. Also, there are evidences that both of the sex chromosomes are expressed in tooth root growth. The permanent tooth crowns in 47,XXY males or individuals with an extra X or Y chromosome show increased size compared to normal men, which is mainly due to increased enamel thickness, the dentin thickness is somewhat reduced. There is some evidence of increased mesio-distal tooth crown size also in their primary dentition. The aim of the present study was to determine their complete permanent tooth root lengths. The study groups consisted of 49 47,XXY males, 22 relative males, 8 relative females, 35 population control males and 46 population control females from the Kvantti research project. Root length measurements were made from panoramic radiographs on both sides of the jaw using a digital sliding calliper. The results showed growth increase in the final tooth root sizes in 47,XXY males which conceivably become evident beginning 8 years after birth up to the age of 14 years, at least. The present results and earlier ones on 45,X and 45,X/46,XX females, normal females and males indicate that the promoting effect of the Y chromosome on tooth root growth is greater than that of the X chromosome. These differential effects are conceivably causative factors in the development of the sexual dimorphism in tooth root size.     

Turner syndrome isochromosome karyotype correlates with decreased dental crown width

The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, and the number of intact X chromosomal p-arms were investigated. In comparisons between karyotypes, statistically significant differences were found for isochromosome karyotype maxillary second premolars, canines, laterals, mandibular first premolars, and canines, indicating that this karyotype was the most divergent as shown by the most reduced crown width. When each karyotype group were compared versus controls, all teeth in the isochromosome group were significantly smaller than controls (P < 0.01-0.001). The 45,X/46,XX karyotype expressed fewer and smaller differences from controls, while 45,X individuals seemed to display an intermediate tooth width compared with 45,X/46,XX and isochromosomes. No significant difference in crown width was found comparing the groups with one or two intact X chromosomal p-arms. Both primary and permanent teeth proved to have a significantly smaller crown width in the entire group of TS females compared to healthy females. We conclude that the isochromosome group deviates most from other karyotypes and controls, exhibiting the smallest dental crown width, while individuals with 45,X/46,XX mosaicism seemed to have a less affected crown width. An influence of the number of intact p-arms on crown width could not be demonstrated in this study.     

Crown components of mandibular molar teeth in 45,X females (Turner syndrome)

This study was designed to determine the possible effect of one X-chromosome constitution on components of the human permanent and primary molar teeth. Enamel, dentine, pulp and crown dimensions were measured on radiographs of first and second permanent and second primary mandibular molars of 49 Finnish 45,X females (Turner syndrome), their 46 first-degree male and female relatives and 50 non-related males and females. In permanent first and second molars of the 45,X females, crown width and the dimensions of tooth components were less than those of normal females and males. Reduction in size affected first more than second molars, and in both teeth the enamel was relatively as well as absolutely thinner than in the controls. No differences were found in tooth components between normal relatives and unrelated controls. These data agree with previous studies which have demonstrated that the X chromosome promotes enamel apposition and that both X chromosomes in normal females are active in amelogenesis, while the Y chromosome influences both dentine and enamel growth. The relative reduction in "dentine" or the estimated mesiodistal width of the tooth germ in the 45,X females indicates that their tooth development is affected at an early stage of morphogenesis. Taken together with the results already reported for anterior teeth, the present results suggest that there is an inverse correlation between the duration of crown formation and the severity of size reduction.     

The craniofacial complex in 45,X/46,XX females

Fourteen Finnish 45,X/46,XX females were compared with population female and male controls, and in addition, nine of them were compared with their first-degree female relatives. Linear and angular measurements were made from standardized lateral cephalograms of patients and normal population controls from the “Kvantti” study series. In both comparisons the results indicated that craniofacial dimensions in 45,X/46,XX females were smaller than those in population female and male controls. The general metric pattern was similar to that observed in relation to the tooth crowns of 45,X/46,XX females. Several of their craniofacial proportions and plane angles differed from those of normal women: shorter anterior and posterior cranial bases and a flatter cranial-base angle, a sagittally shorter maxilla and a sagittally shorter mandible with an enlarged ramus:corpus length ratio, posterior rotation of the mandible and a tendency to bimaxillary retrusion. It is suggested that the reduction of X-chromosomal genetic material in 45,X/46,XX females results in smaller craniofacial dimensions than in normal females, with substantial effects on dimensional ratios and especially plane angles of the cranial base.     

Root morphology of mandibular premolars in human 45,X females

The teeth of 87 Finnish 45,X females, 60 of their first-degree relatives and 87 normal females were examined. The presence of separate mesial and distal root canals and separate root apices was noted from orthopantomograms. Of the 45,X females, 40 (or 46%) had lower premolars with separate root canals; 30 individuals in first and 28 in second premolars. The number of first and second premolars with separate mesial and distal root canals was 40 and 43, and of those also showing separate apices, 28 and 21 respectively. Three of the female relatives and two of the normal females had premolars with separate mesial and distal root canals. The differences between the 45,X females and the two control samples were highly significant (p less than 0.001; Fisher exact test). The findings indicate increased molarization of the premolars in 45,X females; this contrasts with the earlier observation of a tendency to reduced crown morphology. The present outcome supports the hypothesis that the X chromosome has gene(s) involved in the regulation of root morphology.     

Root morphology of mandibular premolars in 40 patients with Turner syndrome

AIM: To analyse root morphology of mandibular premolars in 40 females with Turner syndrome. METHODOLOGY: All patients aged 18-50 years (mean+/-SD: 26.2+/-6.22) were clinically and cytogenetically diagnosed and divided into three groups according to karyotype: I-with 45,X (n=19); II-with 46,X,i(Xq) and other structural changes of this chromosome (n=8); III-with mos45,X/46,XX and other mosaic karyotype (n=13). The control group consisted of 30 healthy women aged 20-50 years (mean+/-SD: 31.52+/-5.21) who underwent dental treatment at the Department of Conservative Dentistry and Department of Periodontology and Oral Mucosa Diseases, Medical University of Gdańsk, Poland. The root morphology of mandibular premolars was studied based on orthopantomogram X-ray images. The results were analysed using chi-square test with Yates's adjustment. RESULTS: Separate mesial and distal root canals and separate root apices were noted on orthopantomograms in patients with Turner syndrome. Two-rooted mandibular first premolars were observed in 34% of cases in group 45,X (group I), in 31% of cases in the group with structural aberrations of chromosome X (group II) and in 31% of cases with mosaic karyotypes (group III). Two-rooted mandibular second premolars were observed in 39% cases in group 45,X and in 31% of cases in the group with structural aberrations of chromosome X and in 35% of cases with mosaic karyotypes. This type of root morphology was not observed in the control group. No significant difference was found between the three groups of Turner syndrome. CONCLUSION: Highly significant differences in root morphology of mandibular premolars between patients with Turner syndrome and a population control group were found.     

Taurodontism in 45,X females

Orthopantomograms of 87 45,X females, 61 first-degree female relatives of these females, and a population sample of 113 normal females and 44 normal males were examined for the occurrence of taurodontism in mandibular molars. In the sample of 45,X females, two showed taurodont lower molars. In one of them, a hypotaurodont second molar was detected, while hypotaurodont third molars were found in the other. Three of the females' relatives and four of the population control females showed taurodontism, three unilaterally and four bilaterally. In all cases, the affected teeth were hypotaurodont. The results suggest that taurodontism occurs in 45,X females with a frequency similar to that in normal females. This result is not in accordance with the hypothesis that low mitotic activity of the chromosomally abnormal cells is an etiological factor in the development of taurodontism. The present findings, together with earlier results, suggest that the gene content of the X chromosome, rather than the amount of heterochromatin, is the cause of taurodontism in individuals with chromosome aneuploidy.     

47,XXX综合征的研究进展

XXX综合征属于性染色体非整倍体的主要形式之一。XXX综合征系患者体细胞核中有一额外的X染色体（染色体核型：47，XXX）。由于大部分患者缺乏明显的表现型特征，造成本综合征有相当大的鉴别难度。本文对XXX综合征的病因，可能的表现型特征及相关的遗传咨询手段作一综述。     

Root growth in the teeth of 46,XY females

The subjects of this study are women with a male sex chromosome complement or 46,XY females who show the complete form of the testicular feminization syndrome (CTF). The basic endocrine defect is end organ insensitivity to androgens. They are on average tall individuals and also show an increase in head and face dimensions relative to normal females. A size increase is likewise evident in permanent tooth crowns and here we report permanent tooth root lengths in eight 46,XY females, their five female relatives and population control females and males. Measurements were made from panoramic radiographs by a digital calliper according to established procedures on both sides of the jaws. The results show increased root lengths of 46,XY females relative to control females with values similar to those in population control males. The root and crown findings point to evident irreversible growth excesses in 46,XY females beginning 3 years after birth up to the age of 14 years expressing an effect which apparently is influencing in a continuous way. Excess root growth conceivably would develop independently of the possible androgen influence, and it is suggested that the increase results from the direct effect of the genes on the Y chromosome. It is possible that these genes on the Y chromosome are the same that promote tooth crown growth.     

Root lengths in 47,XYY males' permanent teeth

Studies on individuals with sex chromosome anomalies have demonstrated the promoting effect of the Y chromosome on tooth crown enamel and dentin growth. The present research investigated permanent tooth root lengths in 47,XYY males. The measurements were made from panoramic radiographs. The results indicate longer tooth roots in 47,XYY males compared with those in control males and females. The promoting effect of the Y chromosome on dental growth thus continues in the form of root dentin after the completion of crown growth. The results, together with those on tooth crown sizes in 47,XYY males, suggest that growth excesses are evident and final, beginning a few months after birth and continuing up to the age of 14 years, at least. The excess root dentin growth in 47,XYY males, as well as sexual dimorphism in the growth of crown and root dentin, might be caused by the same factor on the Y chromosome.     

Dental morphology of 45,XO human females: Molar cusp area, volume, shape and linear measurements

A three-dimensional analysis of the maxillary first molars of five 45,XO females and comparison with normal females and males demonstrated a reduction of cusp areas and volumes in the 45,XO females. Mesiodistal and faciolingual dimensions were also reduced. The reductions in basal area and volume were greater in the later developing, distal cusps. In normal females the second X chromosome apparently does not exert an effect on the cusp height but increases the basal area. The results further indicate that the Y chromosome in normal males increases both cusp height and basal area. The steepest cusps were found in 45,XO females while the shallowest were in the control males. Both sex chromosomes thus seem to affect the shape of the cusp but the resulting phenotypes differ.     

Craniofacial complex specificities in five men with sex reversal syndrome

In order to clarify the role of sex chromosome constitution in craniofacial growth control, we compared craniofacial morphology of men with sex reversal syndrome (46, XX) with the morphology of normal men, Klinefelter's syndrome and normal women, using cephalometric measurements. Due to physical resemblance between men with 46, XX karyotype and men with 47, XXY karyotype, cephalometric analysis comprised parametres which had already been found to be specific for Klinefelter's syndrome, i.e. cranial base length and flexion, maxillary and mandibular base length, jaw position in relation to cranial base and sagittal jaw relationship. Linear measurements showed reduction of about 10% in maxillary base length in 46, XX men in relation to normal men. Mandibular base in men with sex reversal syndrome was also shortened for about 10% in relation to both normal men and Klinefelter's syndrome. Cranial base flexion in men with Klinefelter's syndrome and in men with sex reversal syndrome showed similarity. The basal angle was found to be more acute, for about 4 degrees , in comparison to individuals with normal karyotype. Unlike in men with Klinefelter's syndrome, mandibular and maxillary prognathism were not registered in men with sex reversal syndrome.     

Taurodontism in 47,XXY males: an effect of the extra X chromosome on root development

Effects of an extra X chromosome on root development were studied in males with a 47,XXY chromosome constitution. Occurrence of taurodontism in the permanent molars of the lower jaw was noted from orthopantomograms of 30 Finnish 47,XXY males, 16 of their first-degree relatives, and a sample of 157 normal males and females. Nine, or 30%, or the 47,XXY males had at least one mandibular molar which was classified as taurodont. Only hypotaurodont teeth were found, and the teeth affected were all either second or third molars. None of the control relatives showed taurodontism. In the population sample, four individuals, or 2.5%, had taurodont teeth. A change in the mitotic activity of the cells of the developing teeth is one possible factor that can affect root formation leading to the development of taurodontism.     

4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.

Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.