| Contributed by: Shubha R Phadke Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow |
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| Email: shubharaophadke@gmail.com | ||
| This seven months-old girl child, born to non- consanguineous parents, was evaluated for severe global developmental delay. She was operated for cleft lip and cleft palate. Her karyotype was normal. Identify the intracranial anomaly seen in the MRI Brain images and the likely genetic etiology. | ||
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| Answer to PhotoQuiz 41 |
| Williams-Beuren syndrome (OMIM # 194050) |
| Williams Syndrome (WS), also known as Williams-Beuren syndrome is characterized by cardiovascular disease (peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities and intellectual disability (usually mild). They have a friendly personality and attention deficit disorder. Other findings include growth retardation, endocrine abnormalities like hypercalcemia, hypothyroidism and early puberty. Williams Syndrome (WS) is a microdeletion syndrome caused by a heterozygous deletion of 1.5-1.8-Mb Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene (ELN) at chromosome 7q11.23. It is inherited in an autosomal dominant manner. However, most of the cases are de novo. |
| Correct responses were given by: |
| 1. Sarah Bailur, Hyderabad |
| 2. Veronica Arora, New Delhi |
| 3. Suvarna Magar, Aurangabad |
| 4. Dr Jayarekha Raja, Chennai |
| 5. Kanika Singh, New Delhi |
| 6. Prochi Madon, Mumbai |
| 7. Lekshmi Nair, Hyderabad |
| 8. Vijayalakshmi SR, Coimbatore |
| 9. Ashka Prajapati, Ahmedabad |
| 10. Purvi Majethia, Pune |