Assuntos
Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 15/genética , Translocação Genética/genética , Trissomia/genética , Trissomia/patologia , Adulto , Animais , Cromossomos Humanos Par 10/genética , Feminino , Humanos , Lactente , Masculino , MãesRESUMO
Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat: Partial trisomy 4q is a rare chromosomal abnormality and mostly results from unbalanced inheritance of balanced parental chromosomal translocations. Here, we present a 5-year-old boy with partial trisomy 4q who exhibited distinctive features of 'pure' partial trisomy 4q syndrome including moderate mental and growth retardation, microcephaly, peculiar face appearance, tooth anomaly, cleft palate, language handicap, preaxial polydactyly, and urogenital anomaly. Karyotype analysis of the child revealed der(9)ins(9;4)(q34.3;q26q35.2) inherited from mother carrying ins(9;4)(q34.3;q26q35.2) resulting in trisomy of the 4q26qter segment. Whole chromosome painting, locus specific, and subtelomeric FISH analysis in mother proved that q26qter of the chromosome 4 segment was directly inserted into the telomeric sequence in chromosome 9, and depending on nature of the rearrangement in mother, karyotype of the child was determined to be pure partial 4q trisomy. This is the first report of this kind of rearrangement causing pure partial trisomy 4q with accompanying white matter change demonstrated by MRI and bilateral preaxial polydactyly of both hands.
Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Transtornos do Desenvolvimento da Linguagem/genética , Polidactilia/genética , Trissomia , Anormalidades Múltiplas/patologia , Adulto , Pré-Escolar , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 9/genética , Deficiências do Desenvolvimento/patologia , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Transtornos do Desenvolvimento da Linguagem/patologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Polidactilia/patologia , Trissomia/genética , Trissomia/patologia , Trissomia/fisiopatologiaRESUMO
UNLABELLED: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21A2) gene. METHODS: To determine the mutational spectrum in the Turkish population, the CYP21A2 active gene was analyzed in 100 unrelated patients with the classical form of 21-hydroxylase deficiency using PCR and RFLP. RESULTS: Mutations were detected in 78 patients: 64 patients were homozygous for one mutation, seven patients were compound heterozygous with different mutations on each chromosome, two patients were homozygous for two different mutations, five patients were heterozygous, and 22 patients harbored none of the tested mutations. The most frequent mutation was IVS2-13A/C (28.5%), followed by large gene deletion (17%), Q318X (11.5%), I172N (4%), V281L (3.5%), R356W (3.5%), 8-bp (3%), complex alleles (2%), P30L (1%) and E6 cluster (1%). CONCLUSION: The distribution of mutation frequencies in our study was slightly different from those previously reported in Turkey and in other parts of the world.
Assuntos
Hiperplasia Suprarrenal Congênita/genética , Mutação , Esteroide 21-Hidroxilase/genética , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Feminino , Frequência do Gene , Humanos , Lactente , Masculino , Polimorfismo de Fragmento de Restrição , TurquiaRESUMO
Doctor Refik Saydam is an unforgettable name by virtue of his work in the field of health services, especially regarding those he performed in the early years of the Turkish Republic. In this paper, a brief overview of his life story is followed by a presentation of his activities and enterprises, particularly those related to health policies and health services. To emphasize the importance of his contributions and to show the course taken during his time, his performance is explained with respect to the conditions of his period. Following this phase, information is given about the Hifzissihha Merkezi with a historical approach. It is an institute baring the name of doctor Saydam, who founded it, which finds its origin on the basis of doctor Saydam's ideas about the vital importance of preventive medical services and public health. Finally, the whole subject is thoroughly discussed and evaluated.
