A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

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Abstract

While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

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Diagnosis and mortality in 47,XYY persons: a registry study

Kirstine Stochholm, Svend Juul, Claus Gravholt (2010)

Background Sex chromosomal abnormalities are relatively common, yet many aspects of these syndromes remain unexplored. For instance epidemiological data in 47,XYY persons are still limited. Methods Using a national Danish registry, we identified 208 persons with 47,XYY or a compatible karyotype, whereof 36 were deceased; all were diagnosed from 1968 to 2008. For further analyses, we identified age matched controls from the male background population (n = 20,078) in Statistics Denmark. We report nationwide prevalence data, data regarding age at diagnosis, as well as total and cause specific mortality data in these persons. Results The average prevalence was 14.2 47,XYY persons per 100,000, which is reduced compared to the expected 98 per 100,000. Their median age at diagnosis was 17.1 years. We found a significantly decreased lifespan from 77.9 years (controls) to 67.5 years (47,XYY persons). Total mortality was significantly increased compared to controls, with a hazard ratio of 3.6 (2.6-5.1). Dividing the causes of deaths according to the International Classification of Diseases, we identified an increased hazard ratio in all informative chapters, with a significantly increased ratio in cancer, pulmonary, neurological and unspecified diseases, and trauma. Conclusion We here present national epidemiological data regarding 47,XYY syndrome, including prevalence and mortality data, showing a significantly delay to diagnosis, reduced life expectancy and an increased total and cause specific mortality.

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Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients.

Y Iitsuka, Philippa Simpson, C Samango-Sprouse … (2001)

Klinefelter (47,XXY) syndrome occurs in approximately 1:800 male births and accounts for about 10-20% of males attending infertility clinics. Recent studies have shown no obvious phenotypic differences between subjects in which the extra X-chromosome is of paternal or maternal origin; however, a minority of Klinefelter patients are adversely affected clinically and intellectually to an exceptional level, and the underlying basis of this phenotypic variation is not known. We hypothesize that skewed X-inactivation and possibly parental origin of the X-chromosomes is involved. In this study, we determined parental origin and inactivation status of the X-chromosomes in 17 cytogenetically confirmed 47,XXY cases, two 48,XXYY cases and one mosaic 46,XY/47,XXY case. Eight highly polymorphic markers specific to the X-chromosome and the polymorphic human androgen-receptor (HUMARA) methylation assay were used to determine the parental origin and X-inactivation status of the X-chromosomes, respectively. Overall, 17 cases were fully informative, enabling parental origin to be assigned. In 59% of cases, both X-chromosomes were of maternal origin (Xm); in the remaining 41%, one X was of maternal (Xm) and one was of paternal origin (Xp). In 5 of 16 (31%) cases informative at the HUMARA locus, skewed X-inactivation was observed as defined by greater than 80% preferential inactivation involving one of the two X-chromosomes. The two 48,XmXpYY cases both showed preferential paternal X-chromosome (Xp) inactivation. Three 47,XmXmY cases also showed preferential inactivation in one of the two maternal X-chromosomes. These results suggest that skewed X-inactivation in Klinefelter (47,XXY and 48,XXYY) patients may be common and could explain the wide range of mental deficiency and phenotypic abnormalities observed in this disorder. Further studies are warranted to examine the role of X-inactivation and genetic imprinting in Klinefelter patients.

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The XYY syndrome: a follow-up study on 38 boys.

J-P Fryns, Ron W. P. M. Geerts, S. Steyaert (2002)

In the last decade there has been a significant increase in the proportion of XYY males detected prenatally, mostly as a fortuitous finding. It is of utmost importance to obtain a clear idea of the developmental profile of boys with karyotype 47,XYY and of possible problem areas during further development in order to inform the parents correctly during pregnancy and to provide an adequate surveillance later on. In this study we observed 38 XYY males, of which 12 were diagnosed prenatally. We found that these patients are at considerably increased risk for delayed language--and/or motor development. From birth on, weight, height and head circumference are above average values. The majority attends kindergarten in the normal education circuit although in 50% of the cases psychosocial problems are documented. From primary school age on, there is an increased risk for child psychiatric disorders such as autism. Moreover, although normally intelligent, many of these boys are referred to special education programmes.

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Author and article information

Journal

Journal ID (nlm-ta): Indian J Hum Genet

Journal ID (iso-abbrev): Indian J Hum Genet

Journal ID (publisher-id): IJHG

Title: Indian Journal of Human Genetics

Publisher: Medknow Publications & Media Pvt Ltd (India )

ISSN (Print): 0971-6866

ISSN (Electronic): 1998-362X

Publication date (Print): Sep-Dec 2012

Volume: 18

Issue: 3

Pages: 352-355

Affiliations

[1 ]Laboratory of Medical Genetics, Faculty of Medicine, National University of Rwanda, Rwanda, East Africa

[2 ]Center for Human Genetics, CHU Sart-Tilman, University of Liege, 4000 Liege, Belgium

Author notes

Address for correspondence: Dr. Leon Mutesa, Laboratory of Medical Genetics, Faculty of Medicine, National University of Rwanda, Po Box 30, Butare-Rwanda, East Africa. E-mail: lmutesa@ 123456nur.ac.rw

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Publisher ID: IJHG-18-352

DOI: 10.4103/0971-6866.108033

PMC ID: 3656528

PubMed ID: 23716947

SO-VID: 909411a7-f3b6-4fce-a1c3-f659eee4bbad

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This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

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Most cited references 12

Diagnosis and mortality in 47,XYY persons: a registry study

Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients.

The XYY syndrome: a follow-up study on 38 boys.

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