+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

Journal of Research in Medical Sciences 17(6): 572-574

To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridization to confirm the breakpoint regions. The chromosomal analysis of the two cases revealed a karyotype of 46,X,t(X;22)(p11.21;q13.3) in the first patient and 46,X,t(X;2)(q22;q13) in second patient. Both the cases were confirmed by using whole chromosome paint probes. This is the rare report of X-autosomal translocations with unique breakpoint regions and their association with recurrent miscarriages. The translocation breakpoint in case 2 on Xq22 and on Xp11.21 in case 1 might be a risk factor for recurrent miscarriages. Here the impact of the X-autosomal translocations is discussed.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 054432362

Download citation: RISBibTeXText

PMID: 23626637

Related references

Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. Journal of Assisted Reproduction and Genetics 20(9): 385-389, 2003

Molecular cytogenetic characterization of t(14;19)(q32;p13), a new recurrent translocation in B cell malignancies. Virchows Archiv 450(5): 559-565, 2007

Y-autosome translocation and infertility: Usefulness of molecular, cytogenetic and meiotic studies. Human Genetics 102(1): 98-102, 1998

Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. American Journal of Medical Genetics 52(1): 19-26, 1994

The cryptic Y-autosome translocation in the small Indian mongoose, Herpestes auropunctatus, revealed by molecular cytogenetic approaches. Chromosoma 125(4): 807-815, 2016

Molecular cytogenetic characterization of recurrent translocation breakpoints in bizarre parosteal osteochondromatous proliferation (Nora's lesion). Human Pathology 35(9): 1063-1069, 2004

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions. American Journal of Medical Genetics 63(2): 366-372, 1996

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations. American Journal of Medical Genetics. Part a 126a(3): 229-236, 2004

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13). American Journal of Medical Genetics. Part a 146a(21): 2777-2784, 2008

Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. Genetic Counseling 19(3): 301-308, 2008

Cytogenetic study of recurrent miscarriages and their parents. Genetika 43(4): 545-552, 2007

Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clinical Obstetrics and Gynecology 29(4): 865-885, 1986

Recurrent Miscarriages: Cytogenetic Causes and Genetic Counselling of Affected Families. Clinical Obstetrics & Gynecology 29(4): 865-885, 1986

Low-molecular weight heparin in patients with recurrent early miscarriages of unknown aetiology. Journal of Obstetrics and Gynaecology 28(3): 280-284, 2008

Phenotype and cytogenetic findings in a balanced x autosome x 10 translocation mother and offspring with 46 xy 10q positive and 46 xxp negative. Journal of Pediatric Endocrinology 2(1): 39-44, 1987