Tetraploidy in a 15-month-old girl

✍ Scribed by Shiono, Hiroshi ;Azumi, Jun-ichi ;Fujiwara, Masataka ;Yamazaki, Hirobumi ;Kikuchi, Koukichi ;Optiz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 213 KB
• Volume: 29
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320290311

✦ Synopsis

We present a 15-month-old girl with tetraploidy and compare the manifestations with those of 3 previously reported liveborn infants with the same type of polyploidy. Common anomalies noted included micro-turricephaly, a prominent but narrow forehead, microphalmia or anophthalmia, limb anomaly, sacral meningomyelocele, and mental retardation.