A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

• المؤلفون الرئيسيون: Deepa Banker (مؤلف), Bhavdeep Mungala (مؤلف), Zankhana Parekh (مؤلف), Shachi Ganatra (مؤلف), Vimal Maheshwari (مؤلف), Yashica Raj (مؤلف), Utsav Patel (مؤلف), Digant Patel (مؤلف), Kishan Chamar (مؤلف), Vasu Solanki (مؤلف)
• التنسيق: كتاب
• منشور في: Hindawi Limited, 2023-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, h...