Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ushang Kate"'
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 9, Pp GR01-GR03 (2021)
Tetrasomy 8, a rare genetic abnormality in haematological disorders is associated with Acute Myeloid Leukaemia (AML), Myelodysplastic Syndrome, Myeloproliferative Neoplasms and Acute Non Lymphocytic Leukaemia. It may be found as a sole chromosomal
Externí odkaz:
https://doaj.org/article/00a9a33d93f14594b55c3529063b9d90
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD01-GD03 (2021)
Pentasomy X is a rare syndrome with variable phenotype, that affects females with characteristic clinical features such as severe mental retardation with delayed speech, short stature, facial dimorphism, osseous, articular/skeletal/limb abnormalitie
Externí odkaz:
https://doaj.org/article/ad536c243c9b45efb9cbba59b6f40af8
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD01-GD03 (2021)
Pentasomy X is a rare syndrome with variable phenotype, that affects females with characteristic clinical features such as severe mental retardation with delayed speech, short stature, facial dimorphism’s, osseous, articular/skeletal/limb abnormali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d626a71c593479f7765f927d68fcf319
https://doi.org/10.7860/jcdr/2021/46365.14752
https://doi.org/10.7860/jcdr/2021/46365.14752
Publikováno v:
IOSR Journal of Pharmacy and Biological Sciences. 5:36-39
We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed with Partial androgen insensitivity syndrome (PAIS), an X-linked disorder caused by mutation in androgen receptor gene. Karyotyping was conducted by anal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afeb6ac194377893cf1e50d9402898da
https://doi.org/10.9790/3008-0553639
https://doi.org/10.9790/3008-0553639
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 8, Iss 10, Pp SC01-SC06 (2014)
Background and objectives: The chromosomal abnormalities are one of the important causes of male infertility. In view of the genetic risks for the next generation, the importance of careful evaluation of karyotype is essential. The objective of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ea002a1ebaff035e04f4cca7bc5fd8
https://jcdr.net/articles/PDF/4933/8644_CE(Ra)_F(Sh)_PF1(PAK)_PFA(AK).pdf
https://jcdr.net/articles/PDF/4933/8644_CE(Ra)_F(Sh)_PF1(PAK)_PFA(AK).pdf
Publikováno v:
Indian Journal of Human Genetics
We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a59528aae2bee8f662e0df09ccab336
https://doi.org/10.4103/0971-6866.96677
https://doi.org/10.4103/0971-6866.96677