Williams Syndrome and 15q Duplication: Coincidence versus Association
| Autor: | Aditi Khokhar, Swashti Agarwal, Sheila Perez-Colon |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Ataxia Marker chromosome Short Report Biology medicine.disease Short stature humanities 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Internal medicine Tetrasomy Gene duplication Genetics medicine Autism Williams syndrome medicine.symptom Supravalvular aortic stenosis 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Molecular Syndromology. 8:50-54 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000452360 |
| Popis: | Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea. |
| Databáze: | OpenAIRE |
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