Maternal UPD of chromosome 16 was discovered in a case of spontaneous abortion (Kondo Y et al 2004).
Maternal UPD of chromosome 16 has been associated with intrauterine growth retardation (IUGR) in several cases (Los FJ et al 1998; Lesmana H & Hopkin R 2014, abstracts of the 64th annual meeting of the American Society of Genetics, abstract no. 2785T; Faas BH et al 2010 (Case 21); Yingjun X et al 2017).
Maternal UPD of chromosome 16 has been associated with haematological disorders. Several cases of maternal UPD of chromosome 16 resulting in haemoglobin Bart’s hydrops fetalis have been identified. Hb Bart’s hydrops fetalis is a severe form of alpha-thalassaemia (Wattanasirichaigoon D et al 2008; Kou KO et al 2014; Au PK et al 2016). Maternal UPD of chromosome 16 has been identified as the cause of Fanconi anaemia in three cases due to the unmasking of recessive mutations (Donovan FX et al 2016).

Other cases of maternal UPD associated with IUGR have been reported. However, most had trisomy 16 mosaicism, to which growth retardation could be attributed. Imprinting was considered possible based on studies of 26 patients with placental mosaicism for trisomy 16 (Robinson WP et al. 1997) and based on developmental anomalies in a minority of patients (anal atresia, and hypospadius) (Ledbetter DH et al. 1995).

First confirmed case of paternal UPD was associated with very few defects, possibly indicating paternal UPD of chromosome 16 results in a normal outcome in the absence of homozygous recessive mutations (Kohlhase J, et al. 2000).
Donovan FX et al (2016) identified a case of Fanconi anaemia due to paternal UPD, in addition to the three cases of maternal UPD noted above.
Hamvas A et al (2009) identified three cases of paternal UPD of chromosome 16 that revealed mutations in the ABCA3 gene. Homozygosity for these mutations results in pulmonary surfactant deficiency in the newborn period of life.


Disomy (UPD)



Last Modified 2/14/2017


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