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Query: UMLS:C0033377 (prolapse)
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Cardiovascular anomalies have been studied in 13 subjects (8 males and 5 females, average age 15 +/- 7 years) affected from fragile X syndrome. This group has been examined by standard-ECG, Holter-ECG, echocardiography (M-mode, B-mode, Doppler and color-Doppler). The results have been compared with a control group of 39 subjects (20 males and 19 females, average age 15 +/- 5 years), with non genetic mental retardation. Clinical examination, ECG and Holter did not show any significant pathological alteration compared with the results of the control group. In the study group echocardiography showed the following results: 10 subjects (77%) had mitral valve prolapse of the anterior leaflet (arching); 4 of which (31%) with associated posterior leaflet prolapse; 2 subjects (15%) with posterior aortic leaflet prolapse; 2 subjects (15%) with tricuspid septal leaflet prolapse; 3 subjects (23%) had mild pulmonary artery dilatation; 1 subject (8%) had a mild aortic regurgitation; in 9 subjects (69%), 3 of whom with pulmonary artery dilatation, has been found pulmonary valve regurgitation; 10 subjects (77%) had tricuspid valve regurgitation. In all subjects cardiac dimensions were within the normal range. The most important result, in accordance with literature, is the high prevalence of mitral valve prolapse. The prolapse is asymptomatic and silent. We have never found aortic root dilatation that was described by other Authors. The described anomalies could be ascribed at the dysfunction of the connective tissue. This theory has been confirmed by necropsy studies. Therefore, we suppose that these alterations, particularly the anterior mitral leaflet prolapse, are non casually associated with the fragile X syndrome.
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PMID:[Cardiovascular aspects of Martin-Bell syndrome]. 209 33

The median age at menopause in Western populations of women is approximately 51 years. While very late (i.e., after 54 years) menopause is exceedingly uncommon, a sizeable minority of women experience cessation of ovarian function at or prior to age 45. By convention, menopause that occurs at ages 40-45 is considered "early" and occurs in about 5% of women. Premature ovarian failure (POF) is reserved for the approximately 1% of women who experience hypergonadotropic amenorrhea prior to age 40 years. POF represents the end stage of a variety of disorders that result in the loss of ovarian follicles. Depending upon the age at diagnosis, the probability of a genetic, autoimmune, or idiopathic cause will be more or less likely. Two functioning X chromosomes appear necessary for normal ovarian function. The most obvious genetic cause of POF is Turner Syndrome, in which a complete or near-complete loss of the second X chromosome occurs. Turner Syndrome typically results in the most severe and irreversible POF, often clinically evident prior to menarche. Typically, in Turner Syndrome, menopause precedes menarche, and there is no evidence of ovarian function. However, cases with multiple tissues diagnosed as 45, X have been reported to result in ovarian function and even pregnancy. It is likely that mitigating factors, perhaps autosomal, can modify this most severe and irreversible cause of ovarian failure. Lesser degrees of ovarian failure have also been attributed to partial X chromosome deletions and milder degrees of X chromosome mosaicism. Fragile X syndrome is another example of mild POF that can be linked to disorders of the X chromosome. Other genetic defects are believed to cause POF, yet their prevalence has been difficult to determine. The localization of the gene for the blepharophimosis/ptosis/POF Syndrome has been recently reported, yet this finding has not been seen commonly in POF. Other genetic syndromes including POF await elucidation. Many transgenic "knock-out" animals have been created with deficient ovarian function. Most interesting along these lines is the heterozygous FSH receptor knock-out, which exhibits a reduced follicle reserve and early ovarian depletion. Application of this knowledge and translation of these transgenic experiments into elucidation of clinical disease has been difficult, but represents an area of tremendous potential progress in the understanding of the pathogenesis of POF. Another approach to the genetics of POF has been to examine the genome of affected and unaffected individuals. The genetics appear to differ greatly depending upon the timing of the expression of the POF. For example, women with early menopause are more likely to possess the PVUII polymorphic allele for estrogen receptor alpha. Whether or not this polymorph is more common in women with earlier menopause, i.e., POF, is unclear. Pedigree data indicate that early menopause and premature menopause sort similarly within families. The only difference between women with true POF and those with early menopause may be in the timing of the expression of the syndrome, and not in the genetics. Population genetic approaches analyzing affected and unaffected individuals are underway in several research centers and represent another area of progress. Immune and other, idiopathic causes of POF await further clarification. It is clear that this is an area of great research potential. Understanding how ovaries fail may assist women with this disorder by facilitating the development of novel therapies. Additionally, such information will provide important clues about optimizing ovarian function in individuals without POF who are seeking extension of their reproductive life spans or fertility enhancement by other means.
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PMID:Mechanisms of premature ovarian failure. 1277 39

Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. We report a family with an apparent XLID pattern with the proband, his mother and maternal half brother having an Xp21.3 deletion detected with chromosomal microarray analysis involving the interleukin 1 receptor accessory protein-like 1 (IL1RAPL1) gene. IL1RAPL1 is highly expressed in the postnatal brain, specifically hippocampus suggesting a specialized role in memory and learning abilities. The proband presented with intellectual disability, a broad face, prominent and wide nasal root, ptosis, a wide philtrum and a small mouth. XLID due to involvement of the IL1RAPL1 gene has been reported to cause nonsyndromic XLID. We report a new family with XLID due to partial deletion of IL1RAPL1, summarize reported literature and describe similar phenotypic similarities among the affected individuals in this family and those reported in the literature proposing that deletion of IL1RAPL1 may cause syndromic XLID. Additional reports are needed to further characterize whether syndromic features are related to disturbances of this gene.
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PMID:IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. 2193 24