Objective To compare ultrasound and post-mortem findings in 98 fetuses and infants with an abnormal karyotype.Design Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (NCFM), an abnormal karyotype, and an autopsy performed during the period 1985-94.Results Trisomy 18 and 21 were the two most common abnormal karyotypes. The highest number of congenital anomalies was observed incases with trisomy 13 and 18; congenital heart defects (CHD) were most prevalent among fetuses with trisomy 18. In 80% of cases there was full agreement between the ultrasound and autopsy findings; in another 8% of cases there was nearly complete concordance. Thus, in 88% of cases, the main prenatal sonographic diagnosis was correct. In 6% major autopsy findings were not detected by ultrasound examination, in 1% none of the autopsy findings were detected by routine ultrasound and in 5% ultrasound findings were not verified at autopsy. Where the correlation was related to individual autosomal trisomies, structural anomalies were most often correctly diagnosed in fetuses with trisomy 13, with the main diagnosis correct in all cases; second in accuracy were the ultrasound diagnoses in fetuses with trisomy 21 with the main diagnosis correct in 96%; for trisomy 18 the concordance was less good, with the main diagnosis correct in 71%.Conclusion The present comparison of sonographic diagnoses with post-mortem findings demonstrated good accordance between the two methods. It also demonstrates the importance of awareness of the anomalies known to occur with different aneuploidies.

TP53 mutations have been found in 16–64% of breast carcinomas. The aim of our study was to investigate loss of the wild‐type TP53 gene by in situ hybridization (ISH) of fine‐needle aspirates (FNAC) from breast carcinomas. The material consisted of FNAC from 33 breast carcinomas, with histologic specimens from 19 of the cases. Routine diagnostic smears were used for cytologic grading. ISH of the wild‐type TP53 gene and chromosome 17 was performed on air‐dried smears. Hybridization signals were counted in at least 100 nuclei, and the percentage for each signal number was calculated. FNAC from four fibroadenomas as well as cell preparations from five lymphocyte cultures were used as normal/benign controls. Cutoff for defining loss of p53 gene signals was set at 20% of cells with zero and one gene signal only. Concomitant p53 protein expression was determined on 20 histologic sections and eight additionally available air‐dried smears.

BACKGROUND. nm23 has been recognized as a potential suppressor gene of metastasis. Reduced nm23 expression in breast carcinoma has been found to correlate with axillary lymph node metastases, high grade tumors, and shorter survival. METHODS, nm23 protein was detected immunocytochemically using an avidin-biotin complex technique. When a few cells showed negative or marked reduced cytoplasmic staining, expression was considered reduced. Cytologic grading was performed on routine fine-needle aspirates (FNAC). Ploidy was determined by in situ hybridization of chromosomes 6, 7, 12, and 17 on interphase cell nuclei from FNAC. When all four chromosomes revealed a disome pattern, the tumor was classified as diploid; mixed disome/aneusome carcinomas as well as those with aneusomy in all four chromosomes were considered aneuploid. RESULTS. Approximately 83% of specimens had reduced expression of nm23 protein. Forty-four of 45 lymph node positive tumors as well as 27 of 29 aneuploid tumors, were found to have reduced nm23 expression. Likewise, 49 of 57 Grade 2 (G2) carcinomas (86%) and 20 of 22 Grade 3 (G3) carcinomas (91%) showed reduced nm23 expression. Twenty-nine of 39 Grade 1 (G1) carcinomas (74%) had reduced nm23 expression. None of the GZ or G2 tumors with full nm23 expression had axillary lymph node metastases. CONCLUSIONS. nm23 protein showed a significant inverse correlation with lymph node status, cytologic grading, and ploidy, The nm23 protein antibody may have potential as a preoperative marker in identifying subgroups of patients who either may have a worse prognosis than expected (e.g., those with G1 carcinomas with reduced nm23 expression) or who may be able to avoid axillary lymph node dissection (e.g., those with G1 carcinoma with full nm23 protein expression). (C) 1998 American Cancer Society.

The genes for p53, neu (c‐erbB‐2) and nm23 are all located on chromosome 17. Abnormal expression of their protein products is an important prognostic parameter. The aim of this study was to investigate if numerical aberrations of chromosome 17 are reflected in the expression of these markers. The immunohistochemical expression was analysed on histological specimens from 33 breast carcinomas. In situ hybridization (ISH) was performed on interphase cell nuclei in air‐dried fine‐needle aspirates from the same cases using a digoxigenin‐labelled α‐satellite probe for chromosome 17. ISH for chromosome 6, 7 and 12 was used additionally to give an estimate of ploidy. Of the carcinomas 76% were aneuploid, and numerical abnormalities of chromosome 17 were found in 34%. Abnormal p53 protein was expressed in 15% (five cases). All of these were aneuploid, but only one of them revealed aneusomy of chromosome 17. Neu overexpression was found in 18% of the tumours (six cases). Five of these were aneuploid, whereas two were aneusome for chromosome 17. Four cancers showed full (normal) expression of nm23 protein, whereas 29 had reduced expression. Reduced expression was found in 23 of 25 aneuploid tumours. Numerical aberrations of chromosome 17 were found equally in carcinomas with reduced and full nm23 protein expression. Abnormal numbers of chromosome 17 seem only to have a minor impact on these markers and are not reflected significantly in their expression.

Fine-needle aspirates from 54 breast cancer patients were investigated for numeric aberrations in chromosomes 6, 7, 12, and 17 by in situ hybridization (ISH) of interphase cell nuclei. Ploidy findings were compared with cytologic grading of tumors. Aneuploidy was found in 73% of cases. Chromosomes 6 and 7 showed numeric abnormalities in 63% and 62% of cases, respectively, whereas chromosome 17 retained a disome pattern in 2/3 of the tumors. Thirteen cancers (28% of 47 with four analyzed probes) had a normal signal number in all four chromosomes. In 17 (36%), all four had signal gain. Another 17 showed a mixed disome/aneusome pattern. They presented a continuum of increasing numeric abnormalities, 82% disomy for chromosome 17, and 13 of them were grade 2, indicating intermediate biologic properties. Correlation between grading and ploidy was good, with 10 of 11 grade 1 carcinomas showing diploidy, whereas 33 of 36 grade 2 and 3 tumors had numeric aberrations.

The estrogen receptor (ER) gene is located on chromosome 6. The aim of our study was to investigate whether numerical chromosomal aberrations were reflected in estrogen/progesterone receptor (PgR) status and staining pattern. Fine-needle aspirates from 51 breast carcinomas were investigated immunocytochemically for ER/PgR and by in situ hybridization technique using digoxigenin-labeled alpha-satellite probe for chromosome 6. Cases with > or = 70% two-signal nuclei were regarded as disome; the remaining tumors showed aneusomy with a variable number of signals. Aneusomy was found in 32 tumors (63%), whereas 19 (37%) had a normal number of chromosome 6. Chromosomal gain occurred in all aneusome cases except one. ER- and/or PgR-positive tumors had an equal distribution of disomy and aneusomy. Variable ER staining pattern or ER and/or PgR negativity was associated with numerical aberrations in chromosome 6 in 76% of the tumors. Cancers with uniform ER staining pattern all had normal chromosome number.

Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and skeletal defects. We report a patient with the characteristic features of Rothmund-Thomson syndrome who also had lymphocyte chromosome abnormalities. She has a small flat face with short palpebral fissures and micrognathia together with severe skeletal abnormalities of the upper extremities with absence of both radii, short dysmorphic ulnae, a rudimentary right thumb, and aplasia of the left thumb. She also has anal atresia with a rectovaginal fistula. From the age of 3 months she developed poikiloderma skin changes on the face and extensor surfaces of the extremities. Mental development seems to be normal. Lymphocyte chromosomes in the neonatal period showed an unidentified marker chromosome in eight of a total of 32 cells. A repeat analysis at the age of 10 months showed three abnormal cells out of 100 analysed: 47,XX,-7,+i(7q),+7p, 46,XX,t(3;18)(p14.2;q22), and 49,XX,+del(3)(p11.2),+mar,+mar. A skin biopsy from an affected area showed poor growth and five of 48 cells analysed had structural abnormalities. The father had one of 48 cells with an additional marker chromosome and two cells with different 7;14 translocations. The abnormal chromosome complements in lymphocytes indicate that there may be in vivo chromosome instability in Rothmund-Thomson syndrome.

In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosaicism for aneuploidy was 0.6, and none was observed. The findings indicated that pseudomosaicisms as well as mosaicisms may be diagnosed from randomly distributed single abnormal cells. The probability of erroneously confirming mosaicism increased with the number of cells analysed in the second culture.

Clinical GeneticsVolume 29, Issue 5 p. 467-468 Single abnormal cells may be interpreted as pseudomosaicism or mosaicism Pål Møixer, Pål Møixer Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorEli Ormerod, Eli Ormerod Department of Medical Genetics, Oslo, NorwaySearch for more papers by this author Pål Møixer, Pål Møixer Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorEli Ormerod, Eli Ormerod Department of Medical Genetics, Oslo, NorwaySearch for more papers by this author First published: May 1986 https://doi.org/10.1111/j.1399-0004.1986.tb00535.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume29, Issue5May 1986Pages 467-468 RelatedInformation

Clinical GeneticsVolume 26, Issue 3 p. 268-269 Unexpected findings at prenatal diagnosis Pål Møller, Pål Møller Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorCarl Birger van der Hagen, Carl Birger van der Hagen Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorKåre Berg, Kåre Berg Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorEli Ormerod, Eli Ormerod Department of Medical Genetics, Oslo, NorwaySearch for more papers by this author Pål Møller, Pål Møller Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorCarl Birger van der Hagen, Carl Birger van der Hagen Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorKåre Berg, Kåre Berg Department of Medical Genetics, Oslo, NorwaySearch for more papers by this authorEli Ormerod, Eli Ormerod Department of Medical Genetics, Oslo, NorwaySearch for more papers by this author First published: September 1984 https://doi.org/10.1111/j.1399-0004.1984.tb04389.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume26, Issue3September 1984Pages 268-269 RelatedInformation