Deletion of short arm of chromosome 18, Del(18p) syndrome

• 主要な著者: Prashant Babaji (著者), Anurag Singh (著者), Himani Lau (著者), G Lamba (著者), P Somasundaram (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2014-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. This case report presents with characteristic fe...