Hypomelanosis of Ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism

Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review

“…Two abnormal cell lines resulting in mosaicism have also been reported [Jenkins et al, 1981;Antonarakis et al, 1993;Tzoufi et al, 2007;Becerra et al, 2008]. In all patients, except ours and Tunca et al [2000], the mosaicism was initially detected in blood. The percentage of trisomic cells in peripheral lymphocytes ranged from 4 to 70%.…”

“…Since its first description in 1975 by Rethoré et al,approximately 20 patients have been reported [Rethoré et al, 1975;Martin et al, 1977;Johnson et al, 1979;Turleau et al, 1980;Jenkins et al, 1981;Dallapicola et al, 1984;Ozawa et al, 1984;Fujimoto et al, 1985Fujimoto et al, , 1992Kaplan et al, 1986;Petersen et al, 1986;Lipson, 1987;Cheung et al, 1988;Vachvanichsanong et al, 1991;Antonarakis et al, 1993;Iglesias et al, 1997;Sepúlveda et al, 1998;Tunca et al, 2000;Lynch et al, 2004;Gudrun and Gillbe, 2005;Tzoufi et al, 2007;Becerra et al, 2008]. The existence of a clinically identifiable syndrome has been suggested [Lipson, 1987;Fujimoto et al, 1992;Iglesias et al, 1997;Lynch et al, 2004].…”

“…The most common type of abnormal cell line resulting in trisomy 14 mosaicism is free trisomy 14, found in 58% (14/24), followed by isochromosome 14q in 21% (5/24). Other abnormal cell lines reported include translocation (14;15) [Fujimoto et al, 1985] and dicentric chromosome 14 with a ''mirror image'' duplication resulting in trisomy for the entire chromosome 14 [Tunca et al, 2000]. Two abnormal cell lines resulting in mosaicism have also been reported [Jenkins et al, 1981;Antonarakis et al, 1993;Tzoufi et al, 2007;Becerra et al, 2008].…”

Maternal isodisomy for 14q21‐q24 in a man with diabetes mellitus

“…As mentioned above, most individuals with UPD may present with a common manifestation in case of genomic imprinting; these findings also may not support that maturity-onset DM is an imprinting effect by maternal UPD14. The effect of trisomy-14 mosaicism is also less likely, because our patient never had manifestations characteristic of the mosaicism [Sepulveda et al, 1998;Tunca et al, 2000], and the frequency of his trisomic cell line was negligible, although only the frequency in peripheral blood lymphocytes was available. Furthermore, no type of DM has ever been reported in trisomy-14 mosaic individuals.…”

Trisomy 2 mosaicism in hypomelanosis of Ito

“…However to our knowledge there have been no reports of trisomy 2 mosaicism with HMI. Balanced X-autosome translocations, supernumery X-chromosome ring fragments, ring chromosome 10 and trisomy mosaicism for chromosomes 7, 12, 13, 14, 15, and 18 have been documented in up to 50% of HMI cases [Ritter et al, 1990;Tunca et al, 2000]. It is believed that the presence of mosaic cell lines in the ectodermal precursors creates the patterns of hypopigmented and hyperpigmented skin that typifies HMI.…”