Chromosome 12 Rearrangement in an Adolescent with Primary Myelofibrosis. [PDF]
Indian J Hematol Blood Transfus, 2019 Safavi M +4 more
europepmc +4 more sources
Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans. [PDF]
PLoS ONE, 2011 Prostate cancer (PCa) is a complex disease that disproportionately affects African Americans and other individuals of African descent. A number of regions across the genome have been associated to PCa, most of them with moderate effects.
Carolina Bonilla +4 more
doaj +1 more source
Egyptian Journal of Medical Human Genetics, 2015 Absent abdominal muscles, cryptorchidism, and hydroureteronephrosis are known to occur in the prune belly syndrome (PBS). We present a male with absent abdominal muscles, severe neurologic damage, with global developmental delay, hydroureteronephrosis ...
Kamal F. Akl +5 more
doaj +1 more source
Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BMC Medical Genomics, 2022 Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai +4 more
doaj +1 more source
A family with pericentric inversion of chromosome 12 [PDF]
Japanese Journal of Human Genetics, 1994 A heterozygous pericentric inversion of chromosome 12 (inv(12)) was prenatally diagnosed. The breakpoints were localized to p12.3 and q14, resulting in more than one-third of the total length of the chromosome being inverted. The inversions was transmitted from the father whose phenotype was completely normal.
S, Uehara +4 more
openaire +2 more sources
Mapping of a chromosome 12 region associated with airway hyperresponsiveness in a recombinant congenic mouse strain and selection of potential candidate genes by expression and sequence variation analyses. [PDF]
PLoS ONE, 2014 In a previous study we determined that BcA86 mice, a strain belonging to a panel of AcB/BcA recombinant congenic strains, have an airway responsiveness phenotype resembling mice from the airway hyperresponsive A/J strain. The majority of the BcA86 genome
Cynthia Kanagaratham +7 more
doaj +1 more source
Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
Oman Medical Journal, 2019 Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable,
Afaf Elsheikh +4 more
doaj +1 more source
Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
Scientific Reports, 2021 Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a ...
Weiyin Zhou +5 more
doaj +1 more source
A First Chromosomal Characterization of Black-Spotted Pufferfish, Arothron nigropunctatus (Tetraodontifrom; Tetraodonidae) [PDF]
Science Technology and Engineering Journal (STEJ), 2020 The present study aims to analyze concerned karyotype and idiogram of black - spotted pufferfish (Arothron nigropunctatus Bloch & Schneider, 1801). Chromosome was prepared from kidney tissues of fish reared at Phuket Marine Biological Center, Phuket ...
Montri Reungsing +3 more
doaj +1 more source
Chromosomes of the genus Arge Schrank, 1802 (Hymenoptera, Argidae): new data and review [PDF]
Comparative Cytogenetics, 2023 Results of the chromosome study of 12 sawfly species of the genus Arge Schrank, 1802 are reviewed, including new data on the karyotypes of A. ciliaris (Linnaeus, 1767) and A. enodis (Linnaeus, 1767) with n = 10.
Vladimir E. Gokhman
doaj +3 more sources