Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Cli...

the interpretation of supernumerary chromosome is important for genetic counseling and prognosis. here, we used snp array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the neonatal intensive care unit of shahid sadoughi hospital in 2015.  clinical abnormalities identified in the newborn were dysmorphic...

  Background and Objective: Failure to thrive (FTT) is a sign that describes a particular problem rather than a diagnosis and explain growth failure or more advanced failure to gain weight appropriately. The aim of this study was to determine the prevalence and type of chromosomal abnormalities in patients presented with FTT. Materials and Method: One hundred FTT cases with clinical impressio...

The Y chromosome is important for male development as it contains the sex determining gene SRY and many spermatogenesis genes. Structural abnormalities of the Y chromosome include rings, deletions, inversions, and dicentrics. 4 These types of abnormalities are common in infertile males (1.5%), especially those with azoospermia. 6 However, such rearrangements are unstable and an additional 45,X ...

The Y chromosome is important for male development as it contains the sex determining gene SRY and many spermatogenesis genes. Structural abnormalities of the Y chromosome include rings, deletions, inversions, and dicentrics. 4 These types of abnormalities are common in infertile males (1.5%), especially those with azoospermia. 6 However, such rearrangements are unstable and an additional 45,X ...

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old wo...

BACKGROUND Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morpho...

BACKGROUND 47,XYY syndrome is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. Sex chromosome anomalies are more frequently associated with male infertility. CASE REPORT We present here four cases of infertile men with azoospermia or severe oligozoospermia attending a genetic and fertility clinic. Chromosomal analysis of the peripheral blood lymphocy...

BACKGROUND & OBJECTIVE Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinatal mortality. Cytogenetic & fluorescent in situ hybridization (FISH) studies on developmentally arrested and morphologically poor embryo have shown high frequency of chromosomal abnormality and mosaicism. In this study, we attempted to evaluate chromosome aneuploidy and mosaic...