A simple and reliable protocol for micropropagation during 12 subcultures of two field growth male plants of kiwifruit [Actinidia deliciosa (A.Chev.) Liang and Ferguson] is described. The best results of shoot multiplication and elongation were obtained in Cheng's K(h) medium in the presence of 0.5 μm NAA, 22 μm BA and 1.4 μm GA3 for `Tomuri' explants, and of 0.1 μm NAA, 4.4 μm BA, and 0.3 μm GA3 for clone A explants. In addition, the cytokinin compounds TDZ and mT were also tested allowing improving the multiplication rate in `Tomuri' explants. For rooting, `Tomuri' and clone A developed shoots were treated by basal immersion in a 5 mm IBA solution for 15 seconds. Treated shoots were then cultured in half-strength K(h) medium without growth regulators showing 100% rooting after 30 days. Regenerated plantlets were successfully transplanted to soil (90% survival) and they are actively growing in the field. Somaclonal variation analysis by AFLP was carried out using 15 primer combinations, yielding reproducible and well-resolved bands with a 57% of polymorphism. AFLP markers showed to be effective to discriminate genetic variation in this species, being greater in clone A than `Tomuri'. Chemical names used: N6-benzyladenine (BA); gibberellic acid (GA3); indole-3-butyric acid (IBA); meta-topolin (mT); naphthaleneacetic acid (NAA); thidiazuron (TDZ).
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome of paternal origin. He showed dysmorphic features, axial hypotonia, and delayed acquisition of motor skills. Early diagnosis is essential for optimal treatment of AS children; this is one of the earliest diagnosed cases of AS probably due to the presence of two syndromes. Clinical findings in this patient here described may be helpful to identify any other cases and to evaluate recurrence risks in these families.
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