Regional mapping of the human hepatocyte growth factor (HGF)-scatter factor gene to chromosome 7q21.1.
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Chromosome Mapping↗
Biomedical subjects
L Dalprà
Publications and source records attributed to L Dalprà.
Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation.
A chromosome 13 with extra material on the short arm was observed in a 17-year-old boy showing defects in skeletal growth, an altered hormone profile and asthenoteratozoospermia, and in a 46 XX fetus subjected to prenatal diagnosis. The abnormal chromosome 13 had been transmitted from phenotypically normal parents who were the mother (case 1) and the father (case 2). The extra material on the abnormal chromosome 13 was brightly fluorescent after Q-banding, and positive in C-banding (CBG) and distamycin A-Dapi (DA-Dapi) banding. Staining of the nucleolus organizer region indicated its retention. In-situ hybridization of a Yq-specific repetitive DNA probe to chromosomal spreads from both cases demonstrated that the der(13) chromosome contains sequences of the Yq heterochromatic region. However, the apparently identical unbalanced (Y;13) translocation may either interfere (case 1) or not (father of case 2) with meiotic or postmeiotic sperm cell development.
Adolescent↗
IVF: induction of ovulation in poor responders.
All IVF programs have a consistent rate of failure in inducing ovulations. Pharmacological induction of ovulation is otherwise crucial for an IVF program because of the need for more than one ovum. Since it is well known that the best candidates for HMG treatment are hypogonadotropic women a short reversible hypogonadotropic state was induced in IVF patients by LH-RH agonist (Buserelin). Superovulation was then achieved with very high initial doses of FSH (Metrodin) in order to maximize the ovarian response. This technique used in 116 IVF women induced a satisfactory follicle growth even in 70% of the patients already poorly responsive to HMG stimulation.
Adult↗
Ovarian stimulation of IVF patients: effects of the reversible hypogonadotrophic state induced by GnRH agonist.
Multiple ovulation was induced in 122 hypogonadotrophic IVF patients with large doses of HMG. The hypogonadotrophic state, short and reversible, was obtained by nasal administration of a GnRH agonist (200 micrograms, five times per day). In the 97 induced cycles, a mean of 9.1 follicles was recorded. A comparison of the results obtained for 36 patients who had already been treated with clomiphene and HMG showed both significantly more follicles per cycle (8.5 versus 3.0) and an increase in oocytes retrieved (6.7 versus 1.3) when treated with the agonist and HMG. In addition 11 of 18 already poorly responsive patients had normal responses. The luteal phase was supported by either HCG or progesterone injection. Plasma progesterone profiles were satisfactory and, as expected, the highest progesterone concentrations were associated with HCG treatment.
Adult↗
[Dominant epidermolysis bullosa dystrophica of Cockayne-Touraine. Presentation of a familial case and cytogenetic investigation].
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Adolescent↗
[Partial trisomy 9q: comparison of the syndrome in 2 sisters].
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Child↗
Technical aspects and diagnostic problems of direct chromosome analysis using chorionic villus sampling in the first trimester.
This paper describes 18 months' experience of direct chromosome analysis applied to villi aspirated during the first trimester, using a catheter inserted trans-cervically. A total of 325 biopsy samples were analysed, and there was a diagnostic failure in 6 of these cases (1.8%). An abnormal karyotype was detected in 12 cases (3.8%); three of them were chromosome mosaics not confirmed on amniotic fluid cultures drawn between the 16th and 18th week of gestation. Cytogenetic control was performed on fetal tissues after voluntary abortion. There was a karyotype discrepancy between the placenta and the fetus in two cases out of the 12 mentioned above.
Adult↗
Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy.
A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.
Amniotic Fluid↗
The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families.
Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eight cases were ascertained as balanced carriers. A segregation analysis was performed on the 110 families so far published. It was concluded that the 11q;22q translocation is a relatively frequent event, and that all the cases thus far reported might have the same breakpoints at 11q23.3 and 22q11.2. The translocation seems to be independent of environmental factors and it seems to have a low rate of mutation as indicated by the scarcity of de novo cases. The new data confirmed that only one type of unbalanced karyotype (47,XX or XY+der(22)t(11;22)(q23.3;q11.2)) is found among the offspring of the translocation carriers. The minimal overall recurrence risk for an unbalanced translocation was estimated to 2%. There was no difference between the recurrence risks for male and female balanced carriers, while the trend was confirmed of an excess of female balanced carriers among the phenotypically normal offspring of the t(11;22) female carriers.
Abnormalities, Multiple↗
SCE analysis in children exposed to lead emission from a smelting plant.
The frequency and location of SCE were evaluated in lymphocytes from peripheral blood cultures of 19 children living in a widely contaminated area and showing an increased absorption of lead. In the comparison between the exposed children and a control group living in an uncontaminated area, no significant differences were found in the mean values of SCE frequencies. The distributions of the SCE between chromosomes were proportional to chromosome length in both groups.
Adolescent↗
Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.
The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The main indication groups were: advanced maternal age (2882 cases), previous child with chromosome anomaly from parents with normal karyotype (847 cases), and chromosome anomaly in one parent (97 cases). The other indications for amniocentesis, including cases without a cytogenetic risk, have been assembled into a "miscellaneous" group (1126 cases). We found 125 abnormal fetal karyotypes (2.5%) of which 89 were unbalanced (1.8%). The frequencies and types of chromosome anomalies are reported in detail for each indication group and are compared with the corresponding one from the European Munich Conference. The great majority of these Italian data were not included in the Munich report.
Chromosome Aberrations↗
Satellite associations and silver staining in a case of multiple G and D variants.
Satellite associations and silver staining were analyzed in a normal woman carrying three "s" variants, on chromosomes 13, 21, and 22. Six of the acrocentric chromosomes were identified and a positive correlation between the parameters of satellite association frequency and positive silver staining was found for each chromosome. These parameters seem to depend on the presence and size of a secondary constriction and are unaffected by stallelite size.
Adult↗
Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum.
UV-repair activity was studied in two sibs affected by XP showing different clinical symptoms. Complementation studies indicated that both patients fit into complementation group A. The levels of UV-induced 3H-thymidine incorporation, in fibroblasts and in lymphocytes, are different in the two patients: residual level of repair DNA synthesis in the sister is higher than in the brother. In one of the cell samples analyzed UDS analysis showed that in the sister a low proportion of cells with normal repair synthesis is present.
Adolescent↗
A duplication-deficiency X chromosome in a girl with severe mental retardation.
Clinical and cytogenetic findings in a 14-year-old girl with severe mental retardation and partial Turner's syndrome are reported. An anomalous X was observed in the patient's karyotype. On the basis of QFQ, GAG and RBA banding studies, an Xq duplication (q12 leads to qter) and an Xp deficiency (p22 leads to pter) were apparent in this chromosome.
Adolescent↗
The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31).
A marriage between two first cousins who have the same 2/7 balanced translocation is reported. The chromosome rearrangement was primarily detected in amniotic fluid cells cultured for prenatal chromosome analysis because of advanced maternal age. The translocation was also found in the couple's two normal children and in three other members of the family. The possible zygotic chromosome constitutions following 2:2 meiotic segregation in consanguineous parents with the same translocation are discussed.
Adult↗
Ring chromosome 10 associated with multiple congenital malformations.
A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.
Abnormalities, Multiple↗
A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.
Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus.
Abnormalities, Multiple↗
Adaptation to hypertonicity and selection of cell hybrids.
The ability to survive in hypertonic media varies markedly among different cell strains. This property was exploited to set up a selection procedure to isolate cell hybrids, in cell fusion experiments. The results of a cross between two EUE sublines, with a differential sensitivity to hypertonicity, are discussed.
Adaptation, Physiological↗