Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

background: the human aml1 gene, located on chromosome 21, can be fused to the aml1- eight-twenty-one (eto) oncoprotein on chromosome eight, resulting in a t(8;21)(q22;q22) translocation. acute myeloid leukemia (aml) associated with this translocation is considered a distinct aml with a favorable prognosis. due to the various incidences of the translocation, which is associated with geographic ...

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negat...

Maize B-A translocations result from reciprocal interchanges between a supernumerary B chromosome and an arm of an essential A chromosome. Because of the frequent nondisjunction of the B centromere at the second pollen mitosis, B-A translocations have been used to locate genes to chromosome arms and to study the dosage effects of specific A segments. Compound B-A translocations (B-A-A transloca...

Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome...

A child with multiple congenital anomalies and retardation was found to have a translocation involving chromosome No. 1 and a chromosome of the G group. The affected child has a minute centric fragment of unknown origin in addition to the 1;G translocation. Although the translocation is found throughout 4 generations, the child described here is the only known instance of fetal abnormality in t...

A child with multiple congenital anomalies and retardation was found to have a translocation involving chromosome No. 1 and a chromosome of the G group. The affected child has a minute centric fragment of unknown origin in addition to the 1;G translocation. Although the translocation is found throughout 4 generations, the child described here is the only known instance of fetal abnormality in t...