Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2
➤ Gửi thông báo lỗi ⚠️ Báo cáo tài liệu vi phạmNội dung chi tiết: Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2
Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2
PART FOURDISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18UNIPARENTAL DISOMY AND DISORDERS OF IMPRINTINGUNIPARENTAL DISOMY IS A FASCINATING and Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2 important pathogenetic mechanism. albeit that it is the basis of only a small number of well-defned clinical conditions. At the outset, we may list the following nine well-described uniparental disomy (ƯPD)' syndromes, representing chromosomes 6, 7. 11. 14. 15. and 20. approximately in order of fre Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2quency:Bcckw ilh-Wiedemann syndrome Prader-Willi syndrome Angchnan syndrome Silver-Russell syndrome Kagami syndrome Temple syndromeTransient neonatalEbook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2
diabetesMaternal ƯPD 20Pseudohypoparathyroidism type IBSome of these can be due to genetic causes other than uniparental disomy, and for convenience wPART FOURDISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18UNIPARENTAL DISOMY AND DISORDERS OF IMPRINTINGUNIPARENTAL DISOMY IS A FASCINATING and Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2ene. Nevertheless, the fact remains that most UPDs appear to be without any phenotypic consequence, and a number of syndromes that had originally seemed fair candidates turned out not to be due to IJPD (Kotzot 2002 ).A distinction is to be made between IJPD where both chromosomes arc identical (unip Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2arental ỉsơdisomy. UP1D) and where they arc1 AS a general rule. abbreviations for -uniparental disomy" arc in uppercase IVPD. Vl’MD. Ul’lD i when makiEbook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2
ng troad reference to the concept of uniparental disomy betaodisomy isodi-omy. and in tosvercKC (upd. uphd. upid I. according to the rules of cytogenePART FOURDISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18UNIPARENTAL DISOMY AND DISORDERS OF IMPRINTINGUNIPARENTAL DISOMY IS A FASCINATING and Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2aternal)Segmental i$o>'heterodisomyHeterodisomy (maternal)Iso-d«somy (maternal)Segmental hetero'isodisomy01S488 015214•O1S450•0152667 O1S2697•O1S199•013234 O1S255•152797•D1S2890•015230 0132841•01S207 0132868•D1S206•152726 Ebook Gardner and sutherland’s - Chromosome abnormalities and genetic counseling (5/E): Part 2PART FOURDISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18UNIPARENTAL DISOMY AND DISORDERS OF IMPRINTINGUNIPARENTAL DISOMY IS A FASCINATING andGọi ngay
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