Synapsis of a chromosomal pair heterozygous for a pericentric inversion and the presence of a heterochromatic short arm

1988 ◽  
Vol 48 (1) ◽  
pp. 55-57 ◽  
Author(s):  
D.W. Hale ◽  
I.F. Greenbaum
Keyword(s):  
Pericentric Inversion ◽  
Chromosomal Pair

scholarly journals Fertility problems in males carrying an inversion of chromosome 10

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 316-321
Author(s):  
Xinyue Zhang ◽  
Qingyang Shi ◽  
Yanhong Liu ◽  
Yuting Jiang ◽  
Xiao Yang ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Pericentric Inversion ◽  
Paracentric Inversion ◽  
Chromosome 10 ◽  
Partial Duplication ◽  
Recurrent Miscarriages ◽  
First Case ◽  
Fertility Problems ◽  
Male Carriers ◽  
Male Carrier

Abstract Chromosomal inversion is closely related to male infertility. Inversion carriers may produce abnormal gametes, which may lead to partial duplication/deletion of the embryonic chromosome and result in spontaneous abortion, a fetus with multiple anomalies, or birth of a malformed child. Genetic counselling remains challenging for these carriers in clinical practice. We report two male carriers with inversion of chromosome 10 and review 26 reported cases. In the first case, 46,XX,inv(10)(p13q22) of the fetal chromosome was found in prenatal diagnosis; this was inherited from the paternal side with 46XY,inv(10)(p13q22). Another case was a male carrier with inv(10)(q21.2q22.1). There have been 25 (89.3%) cases of pericentric inversion and three (10.7%) cases of paracentric inversion involving chromosome 10. Of 28 cases, nine were associated with pregestational infertility of the couples, while the other 19 cases were associated with gestational infertility of the couples or normozoospermia. The breakpoints at 10p15, 10p11, 10q11, and 10q21 were associated with pregestational infertility of the couples. The breakpoints at 10p15, 10p14, 10p13, 10p12, 10p11, 10q11, 10q21, 10q22, 10q23, 10q24, 10q25, and 10q26 were related to gestational infertility of the couples or normozoospermia. Although there is a high risk of infertility or recurrent miscarriages, carriers with inversion of chromosome 10 might produce healthy offspring. Natural pregnancy can be used as a choice for inversion carriers with recurrent spontaneous abortion.

Prenatal Diagnosis in Pericentric Inversion 6

2010 ◽  
Vol 10 (1-3) ◽  
pp. 175-178 ◽  
Author(s):  
J. Gazala ◽  
I. V. Amithkumar ◽  
J. Sabina ◽  
K.K. Praveena ◽  
J. Sujatha
Keyword(s):  
Prenatal Diagnosis ◽  
Pericentric Inversion

PERICENTRIC INVERSION OF CHROMOSOME 21 A POSSIBLE FURTHER CYTOGENETIC MECHANISM IN MONGOLISM

The Lancet ◽  
1962 ◽  
Vol 279 (7219) ◽  
pp. 21-23 ◽  
Author(s):  
J.E. Gray ◽  
D.E. Mutton ◽  
D.W. Ashby
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 21

scholarly journals A case of mental retardation having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)).

1985 ◽  
Vol 61 (6) ◽  
pp. 242-244
Author(s):  
Suzue KANATA ◽  
Tetsuji KADOTANI ◽  
Yoko WATANABE ◽  
Nami MATSUO ◽  
Hidetoshi KODAMA ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Pericentric Inversion

SIMULTANEOUS OCCURRENCE OF RING "G" CHROMOSOME AND GROUP "B" PERICENTRIC INVERSION IN THE SAME INDIVIDUAL: CASE REPORT AND REVIEW OF THE LITERATURE

PEDIATRICS ◽  
1970 ◽  
Vol 46 (1) ◽  
pp. 74-83
Author(s):  
Howard Singer ◽  
Nona Suzann Scaife
Keyword(s):  
Pericentric Inversion ◽  
Failure To Thrive ◽  
Male Infant ◽  
Partial Trisomy ◽  
Chromosome Breakage ◽  
B Chromosome ◽  
Individual Case ◽  
Simultaneous Occurrence ◽  
Partial Monosomy ◽  
Structural Abnormalities

A male infant with failure to thrive was found to have a previously unreported combination of chromosomal structural abnormalities. Evidence is presented which characterizes the abnormal chromosomes as a late-replicating G ring and a pericentric inversion in an early replicating B group chromosome. The mechanisms of pericentric inversion and ring formation are discussed, and possible genetic consequences are noted. The patient's phenotype differed significantly from that of previously reported subjects with G rings, G deletions, and structural abnormalities of the B group. This phenotypic difference could be attributed to the apparent fact that the proband's G ring was a late replicator (G1) and earlier cases were not, on to the seeming variability in ring size which suggested partial trisomy/partial monosomy, or perhaps to the probability that the abnormal B chromosome was pericentrically inverted rather than deleted. The question of the etiologic significance of broken parental chromosomes must be raised, although more study is needed in the area of chromosome breakage, its relationship to abnormal progeny, and the possible role of environmental agents, e.g., drugs and irradiation.

scholarly journals Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

2019 ◽  
Vol 36 (12) ◽  
pp. 2557-2561 ◽  
Author(s):  
Katrina Merrion ◽  
Melissa Maisenbacher
Keyword(s):  
Genetic Testing ◽  
Pericentric Inversion ◽  
Chromosome Rearrangement ◽  
Cohort Analysis ◽  
Chromosome 9 ◽  
Structural Rearrangements ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Aneuploidy Rate

Abstract Purpose To report the unbalanced chromosome rearrangement rate and overall aneuploidy rate in day 5/6 embryos from a series of patients who underwent in vitro fertilization (IVF) with preimplantation genetic testing for structural rearrangements (PGT-SR) for the pericentric inversion 9 variant, inv(9)(p11q13) or inv(9)(p12q13), with concurrent 24 chromosome preimplantation genetic testing for aneuploidy (PGT-A). Methods This was a retrospective cohort analysis. IVF cycles and embryo biopsies were performed by referring clinics. Fifty-two trophectoderm biopsy samples from seven couples were sent to a single lab for PGT-SR for an inversion 9 variant with concurrent 24 chromosome PGT-A using single-nucleotide polymorphism (SNP) microarrays with bioinformatics. Results The unbalanced rearrangement rate for this embryo cohort was 0/52 (0.0%); mean maternal age per embryo was 33.3 years (range 21–39 years). The overall euploid rate was 61.5% and aneuploidy rate was 38.5%. Conclusions Chromosome 9 pericentric inversions did not result in unbalanced structural rearrangements in day 5/6 embryo samples, supporting that this population variant is not associated with increased reproductive risks.

Pericentric inversion of chromosome 16 and eosinophilia in chronic myelomonocytic leukemia

1997 ◽  
Vol 94 (2) ◽  
pp. 99-102 ◽  
Author(s):  
Toshihiro Miyamoto ◽  
Koichi Akashi ◽  
Shin Hayashi ◽  
Akiko Oogami ◽  
Takashi Okamura ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Chronic Myelomonocytic Leukemia ◽  
Chromosome 16 ◽  
Myelomonocytic Leukemia
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