Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnos...

INTRODUCTION We report the case of a 14-year-old girl with mental retardation and dysmorphic features referred to child psychiatry because of altered behavior at school. MATERIAL AND METHODS Karyotyping (GTG banding), in situ fluorescent hybridization (FISH) and molecular study of parental origin by polymorphic STS were performed. RESULTS Genetic study revealed a 48,XXXX karyotype with a ma...

background: approximately 205 million pregnancies occur each year in the worldwide. on the other hand, spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. the most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with...

Genes involved and proteins TAL1 Location 1p32 DNA/RNA Complex alternate splicing. Protein Contains a basic Helix-Loop-Helix (DNA binding) domain; forms heterodimers; transcription factor; role in haematopoietic cell differentiation. Yet unknown gene Location 5q31 Result of the chromosomal anomaly Hybrid gene Description Breakpoint on TAL1 was found 10 kb upstream the gene, as was found in the ...

Recent cytogenetic analysis of a series of human renal oncocytomas revealed the presence of a recurring chromosomal translocation (5;11)(q35;q13) as sole anomaly in a subset of the tumors. The molecular characterization of this translocation was initiated using two primary t(5;11)-positive renal oncocytomas and a panel of somatic cell hybrids derived from one of these tumors, in conjunction wit...

Etiology It has been suggested that, although the isochromosomes are rarely the sole abnormality in the majority of cases, they do occur early in the leukemic process. Martineau et al. proposed that isochromosomes are mechanical indicators of genetic events central to the etiology of the leukemia. Epidemiology Isochromosomes are a nonrandom chromosomal anomaly in ALL. The incidence of i(6)(p10)...

Turner Syndrome (TS) is the most common chromosomal anomaly in women. Its psychiatric manifestations have not been clearly defined. Occurrence of schizophrenia is higher in patients with TS than in the normal population. The literature has reported instances associating stuttering as a side effect of antipsychotic drugs, particularly clozapine-induced stuttering. We found only one case report d...

Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is un...

Introduction. Hyperdontia is an odontostomatologic anomaly characterized by an excess in tooth number. It seems to occur more often in patients with hereditary factors concerning this anomaly: this case represents a rare form of hyperdontia, with bilateral multiple supernumerary teeth, with evident penetrance of the phenotype in the family unit engaged in the present study. The karyotype determ...

Genetic disorders are diseases in which genetic factors play an important role in their etiology. They are classified into chromosomal abnormalities, monogenic and multifactorial disorders. While chromosomal abnormalities and monogenic disorders are purely genetic in nature, multifactorial disorders are produced by the interaction between environmental and genetic factors. Although most genetic...