BACKGROUND 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. CASE A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet...

CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. Immunophenotypic analysis confirmed the diagnos...

Biochemical studies showed that the proband had half normal activities of IDH1 and RPE, suggesting that she was a heterozygote for both enzymes. The gene for IDH, has been assigned to sub-band 2q33.3 by Narahara et al.4 High resolution GTG and RBA banding analysis showed that the segment 2q32. 1->q34 was deleted in the proband in agreement with their observations. On the other hand, the gene fo...

background: 49, xxxxy syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. the classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. case: a two month-old boy with intrauterine growth restriction (iugr) and low birth weight, facial dysmorphism, clinodactyly in feet...

Podocnemis expansa and P. unifilis present 2n = 28 chromosomes, a diploid number similar to those observed in other species of the genus. The aim of this study was to characterize these two species using conventional staining and differential CBG-, GTG and Ag-NOR banding. We analyzed specimens of P. expansa and P. unifilis from the state of Tocantins (Brazil), in which we found a 2n = 28 and ka...

Objectives: The aim of this study was to evaluate of fetal chromosome analysis in amniocentesis and fetal blood sampling cases. Method: We analysis of 649 cases between January 2007March 2009 in Dicle University Medical Faculty Department of Genetic. The study was included 552 amniocentesis and 97 fetal blood sampling cases. Lymphocyte culture prepared in duplicate and totally ten slides were p...

We report on a familial three way translocation involving chromosomes 3, 6, and 15 identified by prometaphase banding and fluorescence in situ hybridisation (FISH). Two mentally retarded sibs with different phenotypic abnormalities, their phenotypically normal sister and mother, and two fetuses of the phenotypically normal sister were analysed. The terminal regions of chromosomes 3q, 6q, and 15...

Complex chromosomal rearrangements (CCRs) are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis t...

The etiology of mental retardation (MR), often presenting as developmental delay in childhood, is unknown in approximately one-half of cases. G-banding is the standard method for investigating those suspected of having a chromosomal etiology; however, detection of structural abnormalities is limited by the size and pattern of the G-bands involved. Rearrangements involving subtelomeric regions h...

The natural occurrence of live hybrid offsprings between sheep and goats has been documented in literature, however all the studies have reported the mating of goats with rams, whereas the reciprocal cross was never documented. This study reports on a very rare case of interspecies hybridization occurred between a ewe (2n = 54, XX) and a buck (2n = 60, XY). The hybrid, born in a German flock un...