Possible role of imprinting in the Turner phenotype.

Chu, Carol; Donaldson, M D C; Kelnar, C. J. H.; Smail, P J; Greene, Stephen A.; Paterson, W. F.; Connor, J. M.

doi:10.1136/jmg.31.11.840

Cited by 66 publications

(69 citation statements)

References 6 publications

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“…Nine had a maternal single X chromosome and three had a paternal one (table 3). The frequency of paternal origin of the syndrome observed by us (75%) fell within the limits described for the largest Turner syndrome series, ranging from 68 to 83% [1, 2, 22]. …”

Section: Resultsmentioning

confidence: 71%

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

Martínez-Pasarell¹,

Templado²,

Egozcue³

et al. 1999

Horm Res Paediatr

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In this study, we report an accurate method to determine the parental origin of sex chromosome aneuploidies or polyploidies and to detect low percentage mosaicisms. We have amplified by polymerase chain reaction (PCR) five polymorphic markers along the X chromosome (DXS1283E, DYS II, DMD49, AR and DXS52) and three markers along the Y chromosome (SRY, DYZ3 and DYZ1). False-negative results were discarded by the simultaneous amplification of Y markers and of internal controls. We have applied this protocol to a series of 14 Turner syndrome patients with a 45,X karyotype. We have detected sex chromosome mosaicisms in two patients. The parental origin of the syndrome has been determined in the other 12 patients.

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Section: Resultsmentioning

confidence: 71%

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

Martínez-Pasarell¹,

Templado²,

Egozcue³

et al. 1999

Horm Res Paediatr

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“…Based on the observation that phenotypical features in TS subjects vary greatly, even when focusing on women with monosomy X, an imprinting effect has been proposed as a potential explanation for the observed variance (65). Most of the studies analyzing parent-of-origin effects in TS, report a predominance of the maternal X, largely due to the non-viability of the karyotype 45,Y and a slight preferential loss of paternal sex chromosomes (66, 67,68,69,70,71).…”

Section: Postnatal Diagnosismentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

866

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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“…Parental origin of the X-chromosome has been associated with cardiovascular disease, height, webbing of the neck and psychological profiles [16, 17], suggesting that genetic imprinting of certain genes may affect function.…”

Section: Clinical Manifestations Of Turner Syndrome In Adultsmentioning

confidence: 99%

Adulthood in Women with Turner Syndrome

Ostberg

Conway²

2003

Horm Res Paediatr

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Turner syndrome, resulting from a complete or partial absence of one X chromosome, is the most commonly occurring chromosomal abnormality in females. Patients have traditionally been carefully followed in paediatric practice during childhood, but were often discharged to primary care on reaching adulthood. Adults with Turner syndrome are thought to have a reduced life expectancy, mainly due to excess cardiovascular risk, but they may also have multiple comorbidities including hypothyroidism, deafness, osteoporosis and the attendant problems of oestrogen deficiency and infertility. A multidisciplinary approach to focused adult care is needed, with consideration of how to optimise surveillance strategies in these women.

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Possible role of imprinting in the Turner phenotype.

Abstract: We have attempted to investigate the role of imprinting in the phenotype of Turner's syndrome. Sixty-three patients were investigated for parental origin of the retained normal X chromosome; 43 were found to retain the maternal X (XM) and 20 the paternal (Xe). The relationship be-

Cited by 66 publications

References 6 publications

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Adulthood in Women with Turner Syndrome

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