Natural history of mosaic trisomy 14 syndrome.

Abstract

Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or apparently low-set ears (15/15), micrognathia (15/15), short neck (11/12), congenital heart disease (14/15), and micropenis and cryptorchidism (6/6). Other frequent findings were prominent forehead (12/14), hypertelorism (8/13), narrow palpebral fissure (7/9), large mouth (10/14), cleft or highly arched palate (10/14), body asymmetry (8/12), and abnormal skin pigmentation (6/10). Sex ratio was 6M:9F. Four patients died before age 4 months, while at least 2 patients survived through teens. One boy died at age 3 years following cardiac surgery. One girl with tetralogy of Fallot showed a remarkable improvement in health after Blalock-Taussig procedure. Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropriate self help skills.

• Authors: A Fujimoto, J Allanson, C A Crowe, M H Lipson, V P Johnson
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 44 Issue 2 Pg. 189-96 (Sep 15 1992) ISSN: 0148-7299 [Print] United States
• PMID: 1456290 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (etiology, genetics, pathology)
• Adolescent
• Adult
• Child
• Child, Preschool
• Chromosomes, Human, Pair 14
• Face (abnormalities)
• Female
• Growth Disorders (genetics)
• Heart Defects, Congenital (genetics)
• Humans
• Intellectual Disability (genetics)
• Male
• Mosaicism
• Phenotype
• Syndrome
• Trisomy