Presenting physical characteristics, medical conditions, and developmental status of long‐term survivors with trisomy 9 mosaicism

Abstract

Much of the available literature on individuals with trisomy 9 mosaicism focuses on reports concerning results of prenatal testing or fetal autopsy with limited reports of long-term survivors. Data from the Tracking Rare Incidence Syndromes (TRIS) project offer the largest series to date examining the presenting physical characteristics and medical conditions at birth for 14 individuals. Results indicated the presence of low set ears and microcephaly for some children in the sample. Cardiac anomalies were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a wide range in functioning level with examples of demonstrated skills provided. Implications for professionals caring for patients with trisomy 9 mosaicism are offered.

Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: Implications and recommendations

“…In addition to the data reported here, developmental status results have been reported for cases with trisomy 9 mosaic [Bruns, ; Bruns and Campbell, accepted for publication]. Similar studies should be undertaken for cases with trisomy 18 mosaicism and trisomy 13 mosaicism.…”

Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

“…One infant was further noted to have ASD and ventricular septal defect (VSD). Finally, Bruns [] series of 14 cases confirmed aspects of the trisomy 9 mosaicism phenotypic profile including presence of low‐set ears and micrognathia for some children in the sample. Microcephaly in five cases was also noted along with cardiac defects with almost 30% diagnosed with ASD.…”

“…Between September 1, 2010 and February 28, 2014, 25 parents completed a survey for their child with trisomy 9 mosaicism. (Fourteen cases were reported in Bruns [] for the time period of February 1, 2007 (when TRIS project began) to August 31, 2010. )…”

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

“…Growth retardation, mental retardation, brain, facial, cardiac, renal and skeletal abnormalities are seen in trisomy 9. The mosaic forms of trisomy 9 are less severe symptoms and good prognosis in the literature 3,6 .…”