Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism

Abstract

The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome. The boy also had hypotonia and language delay. Although most of the published cases do not mention any abnormalities in children born after prenatal diagnosis of trisomy 20 mosaicism, the distinct cranio‐facial features and the similarities to previous reports of partial or complete chromosome 20 mosaicism raises the possibility that a recognizable pattern of malformation might be associated with the prenatally diagnosable condition in some cases.

Expanding the phenotype of mosaic trisomy 20

“…Table I lists cases from the literature which significantly resemble our three patients. Additional cases in the literature have a subset of the features we are including in our proposed phenotype, most commonly, hypotonia, mild developmental delay, and pigmentary differences [Holzgreve et al, 1986;Reish et al, 1998; (Table II). Recurring features include spinal abnormalities (including spinal stenosis, vertebral fusion and kyphosis); hypotonia; significant constipation; sloped shoulders; mild retrognathia; pigmentary differences; and significant learning disabilities with normal intelligence.…”

Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review

“…In fact, most features are not reported across all individuals and are not considered pathognomonic of the condition, as they are also found in the general population, although at a lower rate [4]. More specifically, a number of craniofacial [4,[6][7][8][9][10][11][12][13], cutaneous [11,14,15], cardiovascular-pulmonary [7,[16][17][18][19], gastrointestinal [20], endocrinological [15], reproductive [10,15], locomotor [4,7,13,16,[20][21][22], nervous [4,10,14,19,21,23], and cognitive and mental [4,7,13,15,18,20,[22][23][24][25] features have been reported. Due to her neuropsychiatric distress, the patient was referred to the Childhood Neuropsychiatry Territorial Service, where a psychotherapeutic intervention was implemented, along with pharmacological treatment consisting of sertraline oral solution 20 mg/mL, at a dosage of ...…”

Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report

“…Cardiac anomalies are also frequent, and range from ventricular septal defect to transposition of the great vessels to pulmonary atresia. Other commonly reported findings include hypotonia (Holzgreve, Golabi, & Bradley, 1986;Reish et al, 1998;Willis, Bird, Dell'Aquilla, & Jones, 2008), life-long constipation (Willis et al, 2008), sloped shoulders, and spinal abnormalities such as kyphosis and vertebral fusion (Velissariou et al, 2002;Willis et al, 2008). Disorders of skin pigmentation are also seen in many cases.…”

“…Most frequently, these are presented in the literature under the broad category of psychomotor delay (Girard, Guillot, Rivier, Vale, & Bessis, 2005;Hartmann, Hofmann, Hoehn, Broecker, & Hamm, 2004;Hsu et al, 1991;Miny, Karabacak, Hammer, Schulte-Vallentin, & Holzgreve, 1989;Salafsky, MacGregor, Claussen, & Eggeling, 2001;Velissariou et al, 2002). More specific descriptions include delayed social (Willis et al, 2008), emotional (Willis et al, 2008), and language (Holzgreve et al, 1986) development. In addition, there are reports of learning disabilities in the background of average intelligence levels (Willis et al, 2008).…”