RESUMO
AIMS: To survey the diagnostic service provided by UK laboratories for the culture of solid tissue samples (excluding tumours) and in particular to examine the variation in culture success rates and the problems of maternal cell overgrowth. METHODS: Twenty seven laboratories took part in a collaborative survey during 1992. Each laboratory submitted data on up to a maximum of 60 consecutive specimens (n = 1361) over a six month period. RESULTS: Skin specimens, the largest category received (n = 520), were the most problematic (51% success rate). Culture success rates were significantly lower (43%) when skin specimens (n = 140) were transported dry to the laboratory. Success rates for skin specimens also varied, depending on the origin of the specimen, from 18% for intra-uterine deaths (IUD) (n = 94) to 85% for neonatal deaths (n = 33) and 83% for live patients (n = 54). Culture of selected extra-fetal tissues from IUD, stillbirths and following elective termination of pregnancy (TOP) gave comparable success rates to those achieved for skin samples from neonatal deaths and live births. Skewed sex ratios, female > male, were identified for products of conception (POC) (n = 298) and placental biopsy specimens (n = 97). CONCLUSIONS: By appropriate selection, transport and processing of tissues, and in particular by avoiding relying solely on skin samples from IUD, stillbirths and TOP, an increase in culture success rates for solid tissue samples submitted for cytogenetic analysis could be achieved. The high risk of maternal cell contamination from POC and placental biopsy specimens was also identified in this survey.
Assuntos
Citogenética/normas , Serviços de Diagnóstico/normas , Técnicas de Cultura/métodos , Técnicas de Cultura/normas , Feminino , Humanos , MasculinoRESUMO
We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. The patient was found to have Duane anomaly, left renal agenesis, absent uterus, bilateral sensorineural deafness, and bilateral preauricular skin tags and sinuses. Investigation of her family showed that her brother also had Duane anomaly, right renal agenesis, sensorineural deafness, and preauricular skin tags and that their father had preauricular skin tags. Cytogenetic analysis, including in situ hybridisation of peripheral blood lymphocytes, demonstrated a supernumerary bisatellited marker chromosome derived from the region of chromosome 22pter-q11 in the affected individuals. Our findings indicate that a gene or genes located in the region of chromosome 22pter-q11 may be associated with the Duane anomaly and the development of the urogenital tract.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 22 , DNA Satélite/genética , Síndrome da Retração Ocular/genética , Adolescente , Adulto , Bandeamento Cromossômico , Diagnóstico Diferencial , Orelha Externa/anormalidades , Orelha Externa/cirurgia , Família , Feminino , Marcadores Genéticos , Humanos , Cariotipagem , Linfócitos/patologia , Masculino , Mesoderma , Pessoa de Meia-Idade , LinhagemRESUMO
A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of this condition. This case raises the question as to whether the Baller-Gerold syndrome can be considered as a distinct entity. It is suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and that known Roberts syndrome survivors are reviewed for signs of craniostenosis.
Assuntos
Aberrações Cromossômicas , Genes Recessivos , Rádio (Anatomia)/anormalidades , Crânio/anormalidades , Adulto , Centrômero/ultraestrutura , Bandeamento Cromossômico , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 9 , Expressão Facial , Feminino , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Humanos , Fenótipo , Radiografia , Crânio/diagnóstico por imagem , SíndromeRESUMO
This report presents karyotypes of seven breast carcinomas with high ploidy from our total of 111 cases. These karyotypes were highly complex and there was no indication of a specific deletion of 16p12----pter as indicated by the previous analysis of some near-diploid tumors. A comparison of numerical changes did not demonstrate a common loss of chromosome #16 as in the near-diploid tumors, but an equivalent loss of chromosomes #8 and #13 was found.
Assuntos
Neoplasias da Mama/genética , Carcinoma Intraductal não Infiltrante/genética , Carcinoma/genética , Ploidias , Adulto , Idoso , Aberrações Cromossômicas , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , Pessoa de Meia-IdadeRESUMO
Sequential chromosome banding of direct preparations from an infiltrating ductal carcinoma of the left breast of a male, aged 56 years, showed a diploid chromosome range with a mode at 44. Consistent monosomy of chromosomes #2, #3, #4, #6, #11, #15, and #17 and nullisomy of chromosomes #1, #8, and #12 were found. In addition, each cell contained 11-14 markers and 1-7 abnormal chromosomes. Altogether, 16 markers were characterized, and 2 of these involved the long arm of chromosome #1. This chromosome pattern is similar to that in diploid breast carcinomas of the female.
Assuntos
Neoplasias da Mama/patologia , Carcinoma Intraductal não Infiltrante/patologia , Neoplasias da Mama/genética , Carcinoma Intraductal não Infiltrante/genética , Bandeamento Cromossômico , Humanos , Cariotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
Cells in mitosis were found in 51 of 110 (47%) breast tumor samples; karyotypes of nine tumors in the diploid range are presented. The simplest stemline karyotype found was 46,XX, -16, +del(1)(qter----p21). The chromosome homologues most frequently lost were #8, #13, and #16. Monosomy or partial monosomy for chromosome #16 was seen in six cases, including the two simplest and chromosome #16 might be of relevance for initiation of malignant transformation in breast carcinoma. The only chromosome feature common to all nine breast carcinomas was the presence of a marker involving the long arm of chromosome #1, the region shared by all being 1qter----1q21.
Assuntos
Neoplasias da Mama/genética , Carcinoma Intraductal não Infiltrante/genética , Adulto , Idoso , Aneuploidia , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Humanos , Cariotipagem , Pessoa de Meia-IdadeRESUMO
The cell line OAW 42 was established from the ascites of a patient with papillary serous cystadenocarcinoma of the ovary. Cytogenetic analysis at three different passages showed that the line was hypotetraploid, with no distinct mode, and was characterized by 14 stable markers, involving chromosomes #1, #3, #4, #5, #12, #17, #18, #20, and #21. Neither component of the translocation t(6;14)(q21;q24), previously reported to characterize ovarian papillary serous cystadenocarcinoma, was found.
Assuntos
Linhagem Celular , Aberrações Cromossômicas , Cistadenocarcinoma/genética , Neoplasias Ovarianas/genética , Aneuploidia , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , Translocação GenéticaRESUMO
The SV40-transformed breast epithelial cell lines established by Chang et al. [1] were shown to be hypotetraploid and characterized by six chromosome markers: M1 i(1q), M2 del(1)(q21), M3 i(6p), M4 del(1)(q11), M5 t(8p;12q), and M6 dir dup(11)(p12 leads to pter). The presence of common chromosome markers indicates that these cell lines are probably derived from the same original transformed cell.
