Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age, and Obstetric History.

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when first patients with mosaicism T14 were reported, number studies on clinical manifestations this abnormality have been published. No information epidemiological parameters was known except rarity and its predominance among female carriers. This systematic review published cases mosaic that addressed some aspects abnormality. We conducted literature collected 194 regular only two 21,082 tested spontaneous abortuses. Thus, rates nonmosaic 0.9% 0.09‰, respectively. Additionally, we identified 76 carriers T14, diagnosed prenatally postnatally. Among them, there 50 21 due to unbalanced homologous translocation/isochromosome, five non-homologous Robertsonian translocation involving 14. The most significant findings as follows. i) unexplained fourfold rearrangement relative translocations, but occurrence exceptionally rearrangements compared translocations human populations; also, ratio between these types (21 28, respectively) differed from non-mosaic UPD(14) (p < 0.005). ii) Female predominant all studied groups, irrespective type trisomic line parental origin euploid cell line; 19 male 57 reported. iii) differences maternal age without uniparental disomy statistically (average 35.4 29.8 years, respectively; p 0.05). intriguing because common mechanism formation biparental disomy. complicated reproductive history noted 25% families.