In this report we present a 10 year-old girl having behavioral disturbances and a deletion on the... more In this report we present a 10 year-old girl having behavioral disturbances and a deletion on the long arm of chromosome 11 involving the q24 region. We compare our patient manifestations to those associated with the distal 11q2 deletion phenotype. Key words: llq deletion, Jacobson syndrome.
Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. ... more Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular s...
Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain... more Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain, regulation of gonadotropin secretion and sexual interest in adults. Our goal is to determine the developmental mRNA expression patterns of aromatase, estrogen receptor alpha (Esr1) and progesterone receptor (Pgr) in the fetal mouse brain at different times of gestation. Methods: Female mice were mated with fertile males and checked for vaginal plug the next day to confirm successful mating (vaginal plug=day 1 of pregnancy). At gestational days 9-12-15-17-19-21 pregnant mice were sacrificed and fetal brains were removed and mRNAs were isolated and reverse transcribed into cDNAs. In order to evaluate mRNA expression levels, real time PCR was performed employing primers for Cyp19a1, Esr1 and Pgr genes. Results: In our studies, Esr1 and Pgr mRNA expression levels peaked at day 9 and returned to normal adult levels at around day 17-18. Cyp19a1 mRNA expression peaked at day 14-16 along with ...
Turner's syndrome (TS) is one of the most common chromosomal abnormalities with an estimated ... more Turner's syndrome (TS) is one of the most common chromosomal abnormalities with an estimated frequency among female live birth of 1/4000-8000. In this article, we presented a 4 month-old girl with 45, X0 karyotype. The literature about Turner's syndrome was reviewed. [Journal of Turgut Ozal Medical Center 1997;4(4):449-452] Key words: Turner syndrome, growth retardation
In recent years, an important part of the ionizing radiation (IR) that human have been exposed fo... more In recent years, an important part of the ionizing radiation (IR) that human have been exposed for diagnostic purposes are interventional radiologic procedures. The X-rays and contrast media are used in angiography. The patients and staff members are exposed to X-ray during these procedures. While it is known that X-rays cause DNA damage and carcinogenesis, the effect of the contrast agent is still unknown. The aim of this study was to investigate the effect of X-rays and contrast agent on chromosomes of human patients. Peripheral blood samples were taken from 50 patients (30 males, 20 females, ages between 38-75 years). Chromosome analysis of peripheral lymphocytes in 50 patients were performed at 3 different periods; before the interventional radiologic procedure, 24 hours and 1-3 months after the procedure. Also, chromosome analysis was performed on 17 staff members working during interventional radiological procedures to investigate the effect of X-rays. Standard cytogenetic ana...
In this report we present a 10 year-old girl having behavioral disturbances and a deletion on the... more In this report we present a 10 year-old girl having behavioral disturbances and a deletion on the long arm of chromosome 11 involving the q24 region. We compare our patient manifestations to those associated with the distal 11q2 deletion phenotype. Key words: llq deletion, Jacobson syndrome.
Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. ... more Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular s...
Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain... more Purpose: Aromatase (Cyp19a1) is crucial for the sexually dimorphic development of the fetal brain, regulation of gonadotropin secretion and sexual interest in adults. Our goal is to determine the developmental mRNA expression patterns of aromatase, estrogen receptor alpha (Esr1) and progesterone receptor (Pgr) in the fetal mouse brain at different times of gestation. Methods: Female mice were mated with fertile males and checked for vaginal plug the next day to confirm successful mating (vaginal plug=day 1 of pregnancy). At gestational days 9-12-15-17-19-21 pregnant mice were sacrificed and fetal brains were removed and mRNAs were isolated and reverse transcribed into cDNAs. In order to evaluate mRNA expression levels, real time PCR was performed employing primers for Cyp19a1, Esr1 and Pgr genes. Results: In our studies, Esr1 and Pgr mRNA expression levels peaked at day 9 and returned to normal adult levels at around day 17-18. Cyp19a1 mRNA expression peaked at day 14-16 along with ...
Turner's syndrome (TS) is one of the most common chromosomal abnormalities with an estimated ... more Turner's syndrome (TS) is one of the most common chromosomal abnormalities with an estimated frequency among female live birth of 1/4000-8000. In this article, we presented a 4 month-old girl with 45, X0 karyotype. The literature about Turner's syndrome was reviewed. [Journal of Turgut Ozal Medical Center 1997;4(4):449-452] Key words: Turner syndrome, growth retardation
In recent years, an important part of the ionizing radiation (IR) that human have been exposed fo... more In recent years, an important part of the ionizing radiation (IR) that human have been exposed for diagnostic purposes are interventional radiologic procedures. The X-rays and contrast media are used in angiography. The patients and staff members are exposed to X-ray during these procedures. While it is known that X-rays cause DNA damage and carcinogenesis, the effect of the contrast agent is still unknown. The aim of this study was to investigate the effect of X-rays and contrast agent on chromosomes of human patients. Peripheral blood samples were taken from 50 patients (30 males, 20 females, ages between 38-75 years). Chromosome analysis of peripheral lymphocytes in 50 patients were performed at 3 different periods; before the interventional radiologic procedure, 24 hours and 1-3 months after the procedure. Also, chromosome analysis was performed on 17 staff members working during interventional radiological procedures to investigate the effect of X-rays. Standard cytogenetic ana...
Uploads
Papers by Osman Demirhan