De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.

Congenital Complex Chromosome rearrangements (CCRs) compatible with life are rare in humans. We report a de novo CCR involving chromosomes 8, 11 and 16 with 4 breakpoints in a patient with mild dysmorphic features, acquisition delay and psychotic disorder. Conventional cytogenetic analysis revealed an apparently balanced 8;16 translocation.

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.

Heterochromatin confined to pericentromeric and secondary constriction regions plays a major role in morphological variation of chromosome 9, because of its size and affinity for pericentric inversion. We report on a 6-year-old boy with growth and language delay, minor facial anomalies and unusual chromosome 9 variant with an extra-band in the centromeric region on the conventional karyotype. Subsequent analysis by FISH and CGH identified this variant as a dicentric chromosome 9 with a duplication of the 9p12-q21 region.

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis.

Objectives: Early diagnosis of unbalanced chromosomal abnormalities can be crucial in minimizing the trauma caused by an elective abortion. Chorionic villus sampling (CVS) can be performed from 9 weeks of gestation. However, two major problems are encountered in fetal karyotyping using cultured cells from chorionic villi: the relatively slow growth of these cells in culture, which delays the diagnosis, and the occurrence of maternal cell contamination (MCC).

Sperm analysis by FISH in a case of t(17; 22) (q11; q12) balanced translocation: case report.

Individual sperm from men with balanced translocations have different chromosomal contents. Thus, an estimation of the overall sperm chromosomal imbalance of such patients could help to give the couple an adapted genetic counselling. We report here the study of a balanced translocation carrier, t(17;22) (q11;q12) whose reproductive history reported four miscarriages.

Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma.

Background: Brain tumors in patients with Down syndrome (DS) rarely are reported, and their behavior is not well known.

Methods: The authors report on a male patient age 19 years who had DS with diffuse astrocytoma (World Health Organization Grade 2) that recurred twice despite treatment, leading to a glioblastoma and, finally, to death in just over 2 years. The literature on brain tumors in patients with DS is reviewed.

A tumor profile in Down syndrome.

We conducted a review of cancers in Down syndrome (DS), because solid tumors are poorly understood in DS. Cancers are in excess in this condition because of the 20-fold excess of leukemias, whereas malignant solid tumors seem to be globally underrepresented as compared with those in the general population. However, among these tumors, some tumors are in excess: lymphomas, gonadal and extragonadal germ cell tumors, and possibly retinoblastomas and pancreatic and bone tumors.

Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea.

We describe a phenotypically normal female with secondary amenorrhoea due to a translocation of genetic material involving the long arm of chromosome X (Xq28) and the long arm of chromosome Y (Yq11). We used fluorescent in situ hybridization to localize the breakpoint on the Xq. The Y chromosome breakpoint was identified using polymerase chain reaction (PCR) detection of sequence-tagged sites (STS) specific for interval 5 at Yq11.

A case report of Down syndrome and centroblastic lymphoma.

We describe a case of left cervical stage I centroblastic lymphoma in a 29-year old male patient with Down's syndrome due to a (14; 21) Robertsonian translocation. The disease presented as extensive lymph node necrosis leaving rare areas of tumor cells, accounting for the diagnostic difficulties. According to our review of the literature, lymphoma is one of the most common neoplasms in DS patients and may represent the second most common malignancy in this condition, far behind leukemia.

A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women.

A 22-year-old woman seeking medical assistance for hypofertility after two miscarriages had very slight anomalies: mild macrogenia and prognathism, and temporal depilation. Peripheral lymphocytes and fibroblastic karyotypes disclosed the tenth published case of low-level mosaicism for trisomy 18 with normal intelligence. Subfertility is frequently observed among these patients.

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis.

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.

Chromosome analysis by image processing in a computerized environment. Clinical applications.

Dealing with a routine regional cytogenetic activity, we have developed and adapted to clinical work a semi automatic karyotyping machine. Attempts for an accurate automated chromosome classification using a neural network have led to partial results. A specific adaptation to cancer cytogenetics is under development (determination of the modal number, translocations analysis with densitometric curves, automatic identification of markers).

[Complete and homogenous trisomy 9 detected in utero].

During a gestation with oligoamnios and growth retardation noticed at 25th week an amniocentesis allowed us to discover the 14th case of complete trisomy 9, the third detected in utero. It is also the first without heart malformation, otherwise phenotype was usual. The liver had small areas of necrosis with calcifications and slight fibrosis which may be in relation with two cordocentesis made before expulsion.

[Chromosome analysis using image processing. Recent aspects and perspectives].

After a brief description of the automatic metaphase finding and karyotyping systems actually available, the authors describe an interactive method for chromosome analysis. The edges of each chromosome are delineated automatically. The use of 256 grey levels and 512 x 512 pixels allows the accurate classification.

[A new system of chromosome analysis by image treatment: the chromoscan].

The authors present a new interactive system for chromosome analysis. All the operations are checked by the biologist with the use of a "mouse". This system avoids the photographic work and the manual classification.

Translocation t(3;20) associated with thrombocythemia in Ph-positive CML.

A patient with Philadelphia (Ph) chromosome positive chronic myelocytic leukemia is described who also developed an abnormality of chromosome #3, i.e., t(3;20)(p21;p13), in blast crisis.

[Cytogenetic study of 20 cases of refractory anemia].

The myelodysplastic syndromes are a group of hematological disorders not yet clearly defined. The authors describe the chromosomal aspects of 20 cases observed in the region of Clermont-Ferrand in comparison with the bibliographical data.