Y-chromosome centric (not pericentric) inversion results from centric fission
نویسندگان
چکیده
منابع مشابه
Not para-, not peri-, but centric inversion of chromosome 12.
A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodic...
متن کاملFamilial centric fission of chromosome 4.
A centric fission of chromosome 4 is described in the proband and his mother, both phenotypically normal. In addition, partial monosomy for the long arm or the short arm or both of chromosome 4 may have been present in two of the proband's sibs who died in infancy and childhood, respectively.
متن کاملGoldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملMouse centric and pericentric satellite repeats form distinct functional heterochromatin
Heterochromatin is thought to play a critical role for centromeric function. However, the respective contributions of the distinct repetitive sequences found in these regions, such as minor and major satellites in the mouse, have remained largely unsolved. We show that these centric and pericentric repeats on the chromosomes have distinct heterochromatic characteristics in the nucleus. Major sa...
متن کاملInherited pericentric inversion of a human Y chromosome in trisomic Down's syndrome.
Chromosomal inversions appear to be common in many organisms, but their frequency in humans is not known. Routine human mitotic chromosome studies have shown few pericentric inversions, and meiotic studies, which can reveal pericentric and paracentric inversions, have been less extensively applied to human chromosomes. The evaluation of possible chromosomal inversions has also been limited by n...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2014
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2013.10.039