Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
Joint Authors
Peciña, Ana
Antiñolo, Guillermo
Alonso-Luengo, Olga
González-Meneses, Antonio
Vázquez, Rocío
Sánchez, Javier
Borrego, Salud
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-10-14
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG).
The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion on the maternally derived chromosome.
The frequency of AS has been estimated to be between 1/10000 and 1/20000.
Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY).
The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility.
We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome of paternal origin.
He showed dysmorphic features, axial hypotonia, and delayed acquisition of motor skills.
Early diagnosis is essential for optimal treatment of AS children; this is one of the earliest diagnosed cases of AS probably due to the presence of two syndromes.
Clinical findings in this patient here described may be helpful to identify any other cases and to evaluate recurrence risks in these families.
American Psychological Association (APA)
Sánchez, Javier& Peciña, Ana& Alonso-Luengo, Olga& González-Meneses, Antonio& Vázquez, Rocío& Antiñolo, Guillermo…[et al.]. 2014. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1034725
Modern Language Association (MLA)
Sánchez, Javier…[et al.]. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. Case Reports in Genetics No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-1034725
American Medical Association (AMA)
Sánchez, Javier& Peciña, Ana& Alonso-Luengo, Olga& González-Meneses, Antonio& Vázquez, Rocío& Antiñolo, Guillermo…[et al.]. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1034725
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1034725