P37 Routine use of PCR for PGD in translocation carriers: New developments to differentiate balanced carriers from non-carriers
نویسندگان
چکیده
منابع مشابه
Dermatoglyphs in carriers of a balanced 15;21 translocation.
Cytogenetic and dermatoglyphic features were studied in a large family with an inherited 15;21 translocation. Of 35 healthy members of the family, 21 carried the translocation chromosome and 14 were chromosomally normal. There were six members with Down's syndrome who had the translocation. Dermatoglyphic studies showed that carriers of this balanced translocation had the following peculiaritie...
متن کاملPGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis.
Preimplantation genetic diagnosis (PGD) using the first polar body (1PB) is a modality of PGD that can be used when the woman is the carrier of a genetic disease or of a balanced chromosomal reorganization. PGD using 1PB biopsy in carriers of balanced chromosome reorganizations has not become generalized. Here, we describe our experience based on the analysis of unfertilized or fresh, non-insem...
متن کاملReproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to be a carrier of a balanced translocation (2;14)(q36;q21...
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Drug delivery research areas is continuously broaden and modified as a results of the realization of many factors (such as poor drug solubility and/or absorption, rapid metabolism, high fluctuation in the drug plasma level and variability) adversely affect in-vivo results, in conventional drug delivery system. Lipids are one of the basic building blocks of biological membranes. Nanoscale-based ...
متن کاملImmunologic response to vaccine challenge in pregnant PTPN22 R620W carriers and non-carriers
OBJECTIVES Influenza infection is a significant cause of respiratory morbidity among pregnant women. Seasonal influenza vaccination engages innate immune receptors to promote protective immunity. A coding polymorphism (R620W) in PTPN22 imparts elevated risk for human infection and autoimmune disease, predisposes to diminished innate immune responses, and associates with reduced immunization res...
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ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2010
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(10)62353-x