Warkany's syndrome presents a wide phenotypic variability, as observed in a series of reported cases, in both the clinical presentation and cytogenetic analyses are variable. [colombiamedica.univalle.edu.co]

A thorough cardiac evaluation may be advised to detect any heart defects that may be present. [rarediseases.org]

The most likely explanation is that an extra copy of chromosome #21 was present in the egg or the sperm at the time of conception. [mosaicdownsyndrome.com]

Therefore, the child presented with a complete chromosome 7 heterodisomy in blood. [nature.com]

Treatment varies depending on associated symptoms, but typically requires a multidisciplinary team approach. [1] [2] Last updated: 5/24/2016 [rarediseases.info.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Standard Therapies Treatment The treatment of mosaic trisomy 9 is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

At 5 years, facial dysmorphy persisted ( Figure 1 ) and growth hormone treatment, introduced at 3 years, showed good short-term results with height at 105 cm (−1.5 SD). Figure 1 The patient at 5 years. [nature.com]

Mitotic nondisjunction appears to be more frequent, which would explain the mosaicism, lengthy survival and good clinical prognosis of these patients 5 - 8. [colombiamedica.univalle.edu.co]

Hum Mol Genet 1995; 4 : 583–587. 16 Eggermann T, Wollmann HA, Kuner R et al : Molecular studies in 37 Silver–Russell syndrome patients: frequency and etiology of uniparental disomy. [nature.com]

Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. J Craniofac Genet Dev Biol. 1983;3:313-16. Sanchez JM, et al. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome. [rarediseases.org]

National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16. [labtestsonline.it]