TY - JOUR
T1 - Two Y chromosomes with duplication of the distal long arm including the entire AZFc region
AU - Hsu, Hui Kuo
AU - Su, Mei Tsz
AU - Chen, Ming
AU - Yen, Pauline
AU - Kuo, Pao Lin
N1 - Funding Information:
Financial support: The study was supported by a grant from Mr. Ya-Fu Chen, Cheng-Chen Machinery Corporation, Taiwan .
PY - 2014/2/25
Y1 - 2014/2/25
N2 - Chromosome anomalies/rearrangements of the Y chromosome seldom threaten life and are quite common. The 4.5. Mb AZFc region on Yq11.2 is one of the most polymorphic regions in the human genome. AZFc partial deletion is almost inevitably associated with impaired fertility while the functional significance of AZFc partial duplications remains controversial. In this report, a large Y chromosome with one centromere and two heterochromatic blocks was identified incidentally in two men. The first case was ascertained through surveillance for recurrent miscarriage. The second case was ascertained through amniocytes of a fetus and his father. FISH and array-based comparative genomic hybridization showed duplications of the entire AZFc region as well as Yq euchromatic region. The duplications in Case 1 and Case 2 spanned 4.8. Mb and 6.2. Mb, respectively, of the Yq euchromatic region. These two cases suggest that complete AZFc duplication could be completely benign. It awaits further investigation whether this is a bona fide chromosomal polymorphism.
AB - Chromosome anomalies/rearrangements of the Y chromosome seldom threaten life and are quite common. The 4.5. Mb AZFc region on Yq11.2 is one of the most polymorphic regions in the human genome. AZFc partial deletion is almost inevitably associated with impaired fertility while the functional significance of AZFc partial duplications remains controversial. In this report, a large Y chromosome with one centromere and two heterochromatic blocks was identified incidentally in two men. The first case was ascertained through surveillance for recurrent miscarriage. The second case was ascertained through amniocytes of a fetus and his father. FISH and array-based comparative genomic hybridization showed duplications of the entire AZFc region as well as Yq euchromatic region. The duplications in Case 1 and Case 2 spanned 4.8. Mb and 6.2. Mb, respectively, of the Yq euchromatic region. These two cases suggest that complete AZFc duplication could be completely benign. It awaits further investigation whether this is a bona fide chromosomal polymorphism.
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U2 - 10.1016/j.gene.2013.11.061
DO - 10.1016/j.gene.2013.11.061
M3 - Article
C2 - 24321694
AN - SCOPUS:84892432358
SN - 0378-1119
VL - 536
SP - 444
EP - 448
JO - Gene
JF - Gene
IS - 2
ER -