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We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the chromosomal disorder and the CCD.
Today, sensors are increasingly used for data collection. In the medical domain, for example, vital signs (e.g., pulse or oxygen saturation) of patients can be measured with sensors and used for further processing. In this paper, different types of applications will be discussed whether sensors might be used in the context of these applications and their… (More)
We describe a boy with monosomy for the distal part of the short arm of chromosome 3. He had a congenital heart defect, tetramelic hexadactyly, and typical craniofacial anomalies. Comparison with previously reported cases confirms that the phenotype consists of an identifiable pattern of malformation.
We describe a postmenopausal woman with 45,XO/46,XX/47,XXX mosaicism who presented with a Sertoli-Leydig cell tumour and a past history of habitual abortion. The cytogenetic finding is discussed in relation to the etiology of the tumour and of the recurrent abortions.
A placenta percreta must be expected in 7% of all cases of abnormal implantation of the placenta. Placenta percreta is therefore a rare but serious complication of pregnancy. In 15% of the cases spontaneous rupture of the uterus occurs. Depending on the type of delivery, the maternal mortality ranges from 6-30%. Early hysterectomy is the method of choice to… (More)
The risk of developing cancer in the contralateral breast is five to seven times the risk of cancer occurrence for the normal female population. In patients in 365 consecutive operations, 15 frankly invasive cancers and four metastatic lesions were found in the contralateral breast as well as an additional 28 lesions in situ, totaling 13%. An additional 30%… (More)
Fine needle aspiration biopsy cytology allows safe morphologic tumor diagnosis in the prostate based on cytologic and histologic criteria. Specific technical difficulties of the procedure are not greater than in surgical pathology. The standardized equipment developed by FRANZEN is recommended. Aspiration biopsy is atraumatic and without complications. The… (More)
We present a family with an autosomal dominant phenotype characterized by pulmonary valve stenosis, craniofacial dysplasia with marked hypertelorism and, as a variable feature, progressive hydrocephalus. This phenotype is manifested in four patients from three subsequent generations of a family, with expression ranging from mild pulmonary stenosis combined… (More)