Results 11 to 20 of about 7,045,534 (115)

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review [PDF]

open access: yes, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Sezer Acar   +8 more
core   +1 more source

XYY syndrome: a 13-year-old boy with tall stature [PDF]

open access: yes, 2015
When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan ...
김호성   +4 more
core   +3 more sources

D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism

open access: yes, 2021
Chromosomal microarray analysis (CMA), recently introduced following conventional cytogenetic technology, can detect submicroscopic copy-number variations (CNVs) in cases previously diagnosed as “cytogenetically benign”.
Osamu Shimokawa   +8 more
core   +1 more source

Cinta VS Wedhus [PDF]

open access: yes, 2020
Merupakan karya seni sastra berupa karya seni Naskah Drama, dengan judul Cinta VS Wedhus karya dari Karyo ...
Gunawan, Karyo
core  

Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome:a comparative review [PDF]

open access: yes, 2023
Context: Klinefelter syndrome (KS, 47,XXY)and 47,XYY syndrome are genetic conditions characterized by a supernumerary sex chromosome. The conditions share many traits, but considerable phenotypic differences are seen between the two. Focusingon morbidity,
Stochholm, Kirstine   +4 more
core   +1 more source

XYY male

open access: yes, 2011
Men with a 47,XYY karyotype do not present with a well-defined clinical syndrome. The diagnosis relies entirely on the cytogenetic demonstration of two Y chromosomes, accompanying an otherwise normal set of chromosomes.
Dieter Meschede, Eberhard Nieschlag
core   +1 more source

Double Aneuploidy: A Case of Trisomy 21 with XYY [PDF]

open access: yes, 2011
Although aneuploidies are common structural chromosomal abnormalities, double aneuploidies involving chromosomes 21 and Y are very rare. Here we report a case of double aneuploidy involving chromosomes 21 and Y in a 5 day old baby with jaundice and ...
Resit Köken   +13 more
core   +1 more source

47, XYY Syndrome and its Association with Male Infertility: Case Report [PDF]

open access: yes, 2015
47, XYY syndrome is one of the most common sex chromosomal anomaly found in humans after Klinfelter syndrome (47, XXY). It is frequently associated with infertility in males.
Chander Sharma, Naresh   +2 more
core   +1 more source

47,XYY Karyotype in Acute Myeloid Leukemia

open access: yes, 1998
A case of acute myelomonocytic leukemia (AMMoL; M4) with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow cells and mitogen-stimulated lymphocytes.
Aktan, M   +11 more
core   +1 more source

URUPING KARYO [PDF]

open access: yes, 2017
Karya tari Uruping Karyo merupakan sebuah karya tari yang ber-genre langen carita.Karya tari ini terinspirasi dari kehidupan sehari-hari masyarakat yang bekerja di Sawah.
Ratriana Sari, Alifatul
core  

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