Biomedical subjects
Publications and source records attributed to A Gencík.
An 8-year-old boy is reported with marked mental and physical retardation, microcephaly, hypertelorism, mongoloid palpebral fissures, hypoplasia of the maxillary portion of the face, and other discrete anomalies. Deletion of the distal portion of the short arm of the chromosome 1 and the karyotype 46,XY, del(1)(p33----pter) was detected.
Family histories of 189 patients with lymphomas and leukemias and 14 patients with stomach cancer were used in this study. Controls consisted of family histories of 391 patients with other tumors. In the 189 probands with lymphoproliferative disorders stomach cancer accounted for 17.3% of the total cancers in the relatives, whereas in the probands with breast and other types of cancer the corresponding figures were 8.1% and 8.3% as against an incidence of 5.9% of stomach cancers in Basel. In first-degree relatives, the incidence of stomach cancer was higher than expected in the families of probands with malignant lymphoma and stomach cancer. It is suggested that an inherited subclinical disturbance of the immune system is involved in familial association of stomach cancer with malignant lymphoproliferative disorders.
Breast cancer is in many aspects a heterogeneous disease. This becomes also evident in family studies. The families of 116 women with breast cancer with 50 years and less at diagnosis were compared to than of 161 breast cancer patients with 51 years and more with respect to breast cancer in the relatives. Younger breast cancer patients had more second degree relatives with breast cancer. Probands with a positive family history were on the average 10 years younger than probands with a negative family history. A positive family history increases breast cancer risk by 4.3 times for first degree relatives and by 2.3 times for second degree relatives in comparison to the general population. These results point to an etiological heterogeneity of breast cancer.
Pedigree data were systematically collected from patients with newly diagnosed malignant diseases in hospital outpatient services and private offices in Basel. Special efforts were made to verify every tumor diagnosis. The families of 380 adult cancer patients (greater than 16 years; 160 men and 220 women) were evaluated. The mean number of relatives per family tree was 33 (5.9 first degree) in men and 39 (6.4 first degree) in women. There were 29% of families with one, 11% with two, and 6% with three or more first-degree relatives who had cancer. In 6% of the families there was one or more first-degree relative with cancer of the same site as in the proband. Hereditary cancer syndromes were detected in several families. Fifty-four percent of all families showed no tumor occurrence in first-degree relatives. Our program clearly demonstrates that a carefully obtained family history can lead to the recognition of persons with high cancer risk in oncological practice.
Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis.
The present study reports on two siblings of different sex, affected with a condition corresponding to Mohr syndrome. Characteristic symptoms such as epicanthic folds, a broad and flattened nasal root, a lobulated and hamartomatous tongue, poly- and syndactyly on both hands and feet, doubling of the big toes with less frequent features such as marked psychosomatic retardation and overall hypotony have been observed. All the cited anomalies have been of importance in the differential diagnosis. Difficulties associated with classification of new syndromes and the importance for practical clinical genetics of distinguishing between them are discussed.
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Two cases of association of unilateral and bilateral retinoblastoma, respectively, with interstitial deletions of long arms of chromosome 13 are presented. The clinical pictures of both children corresponded to the moderate extent of the deletions, with both somatic and mental retardation in both children, and mild phenotypic manifestations (hypertelorism, slight epicanthi, mild facial hirsutism, and partial syndactyly in the child with unilateral retinoblastoma). Opinions concerning the association of chromosome 13 deletion with retinoblastoma are discussed.
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A female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the ABO blood group system by the presence of two different erythrocyte populations, A1O and OO. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient.
Analysis of 126 families comprising 205 patients with congenital glaucoma demonstrates that in Gypsies this disease follows the pattern of autosomal recessive inheritance with complete penetrance, while in the non-Gypsy population, its mode of inheritance is most probably multifactorial. In Gypsy patients with congenital glaucoma, the eyes are always bilaterally affected, the onset of the disease is in the prenatal period, and its course is rather severe. The population frequency of the disease is extremely high (among Gypsies), and the consanguinity rate among parents is as high as 41%. In non-Gypsy patients, 26.6% of all cases are only unilaterally affected, and the course of the disease is generally milder with a later onset. The population frequency in a non-Gypsy population is much lower, the consanguinity rate is not increased, and an excess of males (1.55:1) is significant.
The frequency of fluorescent Y chromatin bodies was studied in white blood cells of 30 newborn males during the first 5 days of life. No significant day-to-day changes were observed within the neonatal period (Tab. I). This finding indicates that the changes of both X and Y chromatin frequency reported previously for buccal mucosa cells of newborn infants have no profound biological significance, and that they are due to the condition of buccal mucous cells in the neonatal period which renders these cells less suitable for sex chromatin determination.
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Relying on the analysis of 81 non-Gypsy families with congenital glaucoma from the entire territory of Slovakia, the authors discuss the share of the genetic component in the etiology of the disease. The characteristics of the families of this series resembled those of comparable series as far as the percentage of familial occurrence, the percentage of bilateral occurrence (73.56%), the percentage of parental consanguinity (4.87%) and in the prevalence of males with a ratio of 1.55:1 are concerned. The incidence of the disease in Slovakia varies around 1 per 22,000 live-born infants. In the non-Gypsy population of Slovakia, the authors assume a multifactorial etiology.
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