We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not ...

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism,...

The present study reports the chromosome number and meiotic behaviour of 14 populationsbelonging to four taxa of Anchusa subgenus Buglossum Gusul. from Iran. All populationsshowed the chromosome number 2n= 4x= 32. It is the first meiotic study for A. subg.Buglossum. We discuss some habit form and evolutionary aspect in the light of cytogeneticdata. The origin of polyploidy (auto-allopolyploidy)...

Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.

Abstract In northern European Cochlearia (Brassicaceae), considerable chromosome variation has taken place without corresponding morphological differentiation, resulting in an intricate species complex including two base numbers and several ploidies. Here, we investigate the situation Iceland. The distribution, genetic structure, taxonomy origin of cytotypes (2n = 12 2n 14) present Iceland are ...

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases h...

Eleven populations of five Avena species were analysed for meiotic characters including chiasma frequency and distribution as well as chromosomal association and segregation. Plants of a single population of A. eriantha showed the presence of 2n = 14 (diploid) and 2n = 4x = 28 chromosome number. Populations of A. barbata and A. wiestii possessed n = 14, while populations of A. sterilis ssp. lud...