Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?

Butler, Merlin G.; Hedges, Lora K.; Rogan, Peter K.; Seip, James R.; Cassidy, Suzanne B.; Moeschler, John B.

doi:10.1002/(sici)1096-8628(19971003)72:1<111::aid-ajmg22>3.0.co;2-t

Cited by 21 publications

(20 citation statements)

References 9 publications

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“…On rare occasions, a second chromosomal anomaly is noted in addition to the 15q11.2 deletion, such as Klinefelter syndrome. [155][156][157] Counseling of the family regarding the clinical fathers of children with an IC deletion should have DNA methylation and dosing analysis (or sequence analysis) to determine whether they carry the IC deletion.…”

Section: Genetic Counselingmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

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1,119

1,193

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Section: Genetic Counselingmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

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1,119

1,193

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“…Her predominant phenotype is that of PWS, although overlapping with trisomy X syndrome is possible. The functional nullisomy caused by lack of expression of imprinted alleles on chromosome 15 seems to have more impact on the phenotype than overexpression of genes on the X-chromosome (6). The relatively high incidence of sex chromosome aneuploidies and the subtle clinical abnormalities found in the triple-X syndrome attest that the latter condition is less harmful during development.…”

Section: Discussionmentioning

confidence: 99%

“…Only three patients have been reported with coexisting PWS and 47, XXX syndrome (4)(5)(6); in all of these cases PWS was caused by maternal UPD. To our knowledge the present article is the first one reporting a PWS due to paternally derived deletion associated with 46,XX/47,XXX mosaicism.…”

Section: Introductionmentioning

confidence: 99%

Prader-Willi syndrome with associated triple X mosaicism

Paşcanu¹

2010

Acta Endo (Buc)

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Prader-Willi syndrome (PWS) is commonly caused by the absence of the paternal contribution for imprinted genes in chromosomes 15q11.We present a case of a 16 years-old girl with hypotonia, feeding difficulties, failure to thrive and strabismus during infancy followed by hyperphagia, early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of individuals with PWS. Routine Giemsa banded chromosomes were obtained from peripheral blood lymphocytes. Karyotype analysis showed a mosaic triple X (46,XX/47,XXX). Using methylation studies of the PWS critical region (SNRPN locus) and by polymorphic microsatellite analysis, the existence of microdeletion of the critical area on paternal chromosome 15 was shown in white blood cells.Mosaicism for triple-X was observed in other three reported patients with PWS but in all of these reported cases an uniparental maternal heterodisomy for chromosome 15 was described. The X chromosome mosaicism in our case is presumed to have arisen postzygotically. The findings in our patient provide evidence that these two chromosomal anomalies are not related and had occurred together coincidentally. Genetic counseling for this family should consider these two conditions separately and provide separate recurrence risks for each.

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“…Approximately 70%-80% of PWS patients have a paternal deletion of chromosome 15q11-q13, and a majority of nondeletion patients have maternal disomy of chromosome 15 or chromosome 15q11-q13. Several patients with Klinefelter syndrome and PWS and some with trisomy X syndrome and PWS have been reported (Butler et al 1997). It was probable that non-disjunction of chromosome 15 and other chromosomes may have occurred coincidentally at some frequency.…”

Section: Introductionmentioning

confidence: 99%

Prader-Willi syndrome in a child with XYY

Honma¹,

Ishii²,

Ito

et al. 1999

J Hum Genet

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We report a 26-month-old boy with XYY syndrome, with the complication of Prader-Willi syndrome (PWS) due to uniparental maternal disomy of chromosome 15. To our knowledge, this is the first case of XYY syndrome and PWS. Clinical findings were fully compatible with the diagnostic criteria for PWS. Molecular analysis revealed a maternal heterodisomy of chromosome 15, indicating that non-disjunction of chromosome 15 had occurred at maternal meiosis I, and that the non-disjunction of chromosome Y and of chromosome 15 had occurred independently.

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Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?

Cited by 21 publications

References 9 publications

Prader-Willi syndrome

Prader-Willi syndrome

Prader-Willi syndrome with associated triple X mosaicism

Prader-Willi syndrome in a child with XYY

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