Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

Mini-Review Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

“…The clinical features of the patients with epimutation or with mosaic upd(14)mat were not distinct from those of the patients with full upd(14)mat (Hosoki et al, 2009). Thirteen patients were positive for fragile X (Nowicki et al, 2007); 2/117 had a deletion in 1p36 (Tsuyusaki et al, 2010).…”

“…If two or more articles reported the same chromosomal alterations for PW-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports (Lukusa and Fryns, 2000;De Molfetta et al, 2002;Florez et al, 2003;Stalker et al, 2003;Niyazov et al, 2007;Nowicki et al, 2007;Gabbett et al, 2008;Pramyothin et al, 2010;Tsuyusaki et al, 2010;Ben-AbdallahBouhjar et al, 2012;Doco-Fenzy et al, 2013;Izumi et al, 2013) and two reported series of cases: one of 78 cases (Hosoki et al, 2009) and another of 9 cases (D'Angelo et al, 2013) ( Table 1). The patients included in this review were clinically diagnosed as bearing the PWlike phenotype because they were negative for alterations on 15q11-q13.…”

“…After the application of these techniques, the authors were able to exclude classical PWS, i.e., the syndrome caused by deficiency on 15q11-q13. They investigated further and discovered other mutations that could be associated with the PW-like phenotype, such as: a molecular pattern compatible with Angelman's syndrome (De Molfetta et al, 2002); chromosome 14 maternal uniparental disomy (Hosoki et al, 2009); monosomy of 1p36 (Tsuyusaki et al, 2010); deletion of 6q (Izume et al, 2013), 2pter deletion (Doco-Fenzy et al, 2013); and 10q26 deletion (Lukusa and Fryns, 2000); paracentric inversion (X)(q26q28) (Florez et al, 2003); 12q subtelomere deletions (Niyazov et al, 2007); Xq27-qter disomy; deletion 3p26.3 (Ben-Abdallah-Bouhjar et al, 2012); fragile X (Nowicki et al, 2007); and fragile X with 47,XYY (Stalker et al, 2003); deletion in 6q (Izumi et al, 2013); and Klinefelter syndrome karyotype, which showed a duplication of X(q21.1-q21.31) (Pramyothin et al, 2010) (Table 1). Recently, D'Angelo et al (2013) reported different copy number imbalances of chromosomes 2, 3, 6, 10, 12, 14, and X, in nine patients showing the PW-like phenotype.…”

Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14

“…Studies on the placentas of infants with UPD of chromosome 14 and related epimutations suggest that DIO3 is not imprinted in this tissue in humans. 9 In the mouse, Dio3 is considered an imprinted gene, as fetal tissues exhibit marked preferential Dio3 expression from the paternal allele. 10,11 In the mouse placenta, Dio3 is preferentially expressed from the paternal allele, although the contribution of the maternal allele to overall Dio3 expression is significant.…”

Going BAC or oligo microarray to the well: A commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

“…6 Physicians should know the limitations of each microarray in order to prevent the misdiagnosis of unfamiliar but important UPD disorders, such as maternal or paternal UPD chromosome 14. 7 G-banded cytogenetic analysis still has the advantage over microarrays in terms of cost and ability to identify balanced rearrangements. Recognizable chromosomal syndromes, such as Down syndrome, trisomy 13, Turner syndrome, Klinefelter syndrome and MCA/MR with a family history of recurrent miscarriage or reproductive loss, all of which may be caused by balanced translocations, can be more efficiently diagnosed by traditional karyotyping.…”