The robertsonian translocation of ‘21/22’ in nonobstructive azoospermia: A rare case report from India

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The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report

Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...

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Robinow Syndrome: a Rare Case Report from a Tertiary Care Hospital in Eastern India

Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

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Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report

Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...

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a robertsonian translocation rob (14;15) (q10:q10) in a patient with recurrent abortions: a case report

introduction: robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. in this report, we present a nonhomologous robertsonian translocation in a female patient with a history of repeated abortions. case presentation: a couple with the complaint of repeated abortions was admitted in the...

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ژورنال

عنوان ژورنال: Journal of Human Reproductive Sciences

سال: 2019

ISSN: 0974-1208

DOI: 10.4103/jhrs.jhrs_13_19