1/110. Wolf's syndrome in twins -- translocation in the mother.A case of MZ twins, both affected by Wolf's syndrome, is described. Their mother, of subnormal look and low intellectual level is translocated. The children, born with a weight and size much below the average, show a very special morphotype; a hook-nose, an an abnormal conformation of the back edge of the nostrils (a protrusion in the shape of a horn overhanging the filtrum), hypertelorism, microcephaly. Great asynchronism in the maturation of the bones and a somatoschisis of the body of the cervical vertebrae are noted. Deletion of the short arm chromosome 4 is juxtacentromeric. The study of blood and tissue groups corroborates monozygosity. Dermatoglyphs are little abnormal and identical in the two children. The mother's family is phenotypically normal. At 19 months of age, measuring is still below 4, psychomotor progress is extremely weak, and convulsions are frequent.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
2/110. Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins.ring chromosomes are estimated to occur in 3/10000 newborns and the simultaneous occurrence of two autosomal rings must be a very rare event. Recently, the characterisation of these markers using fluorescence in situ hybridisation (FISH) has greatly enhanced cytogenetic-phenotypic correlations in patients with these marker chromosomes. This kind of analysis enabled us to clarify a unique karyotype containing a r(1) and a r(16) in identical twins born after a 26 week gestation with minimal somatic abnormalities. The origin of the rings was identified using a satellite and whole chromosome painting probes. FISH analysis showed the same abnormal female karyotype in both twins, 48,XX, r(1)(p13q21), r(16)(p11q11).ish r(1) (D1Z5 ,wcpl ), r(16)(D16Z2 ,wcp16 ) in about two thirds of the cells. Each also had minor clones with a normal female karyotype or with one or the other supernumerary ring. Half of the r(1) contained CBG band negative material and the r(16) appeared to be totally CBG band positive. These twins represent the second report of the simultaneous occurrence of multiple autosomal rings. Their description may help to delineate a new chromosome disorder and shows the usefulness of FISH analysis.- - - - - - - - - - ranking = 8keywords = chromosome (Clic here for more details about this article) |
3/110. Paternal sex chromosome aneuploidy as a possible origin of turner syndrome in monozygotic twins: case report.The meiotic or mitotic origin of most cases of turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for turner syndrome of paternal origin. The paternal origin of the single x chromosome was determined by polymerase chain reaction (PCR) amplification. No mosaicism was detected for the X or y chromosome. In this case, a meiotic error during gametogenesis would be a likely origin of X monosomy. To determine if meiotic errors are more frequent in the father of these monozygotic twins concordant for turner syndrome of paternal origin, molecular studies in spermatozoa were conducted to analyse sex chromosome numerical abnormalities. A total of 12520 sperm nuclei from the twins' father and 85338 sperm nuclei from eight normal donors were analysed using three-colour fluorescent in-situ hybridization. There were significant differences between the twins' father and control donors for XY disomy (0.22 versus 0.11%, P < 0.001) and total sex chromosome disomy (0.38 versus 0.21%, P < 0.001). These results could indicate an increased tendency to meiotic sex chromosome non-disjunction in the father of the Turner twins.- - - - - - - - - - ranking = 9keywords = chromosome (Clic here for more details about this article) |
4/110. Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping.A complex chromosome rearrangement (CCR) with eight breakpoints resulting in four derivative chromosomes (4, 11, 12 and 13) was detected prenatally in a male fetus of a twin pregnancy. The karyotype of the female second fetus was normal. The apparently balanced de novo CCR was identified by classical cytogenetic methods and fluorescence in situ hybridization (FISH). We compared these findings with results from spectral karyotyping (SKY).- - - - - - - - - - ranking = 10keywords = chromosome (Clic here for more details about this article) |
5/110. Confirmation of paternal disomy in a twin molar pregnancy. A case report.BACKGROUND: Paternal dispermy can be the pathogenesis of complete molar pregnancy. CASE: A 23-year-old, white woman, gravida 4, para 1, was pregnant with a twin gestation by ovulation induction with metrodin. Ultrasound evaluation confirmed an intrauterine pregnancy in conjunction with what appeared to be a hydatidiform mole. The karyotype in the molar pregnancy, obtained from chorionic villus sampling, showed a pair of paternally derived inverted chromosomes 9, confirming the diagnosis of a complete mole. Uncontrollable hemorrhage with a rapid rise in the beta-human chorionic gonadotropin titer necessitated evacuation of the uterus. The patient was followed with beta-human chorionic gonadotropin titers for a year, with no evidence of recurrence. CONCLUSION: This case illustrates paternal disomy in a complete molar pregnancy documented by a paternal chromosome 9 inversion.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
6/110. Spontaneous remission of congenital acute nonlymphoblastic leukemia with normal karyotype in twins.BACKGROUND: Congenital acute nonlymphoblastic leukemia (cANLL) is an extremely rare event and represents only 0.5-1% of the leukemias in the first year of life. It is usually more common among patients with chromosomal abnormalities. Transient myeloproliferative disease (TMD) is an hyperleukocytosis entity that occurs almost exclusively in down syndrome patients and remits spontaneously. Spontaneous remission of congenital leukemia has been reported and related to the presence of an extra chromosome 21. PROCEDURE: A pair of non-down syndrome newborn twins presented with a clinical picture of skin rash and hyperleukocytosis. Twin B had full-blown cANLL with bone marrow, peripheral blood, skin, CSF, and placental invasion. Twin A presented transient peripheral blood and skin involvement by the same type of blast cells. No cytotoxic therapy was given. With 2 years follow-up, they continue to do well. RESULTS: Histologic and immunophenotypical analysis of placentas, cord blood, skin, CSF, bone marrows, and peripheral blood revealed a consistent picture of intrautero cANLL in twin B, with transplacental invasion of twin A. Normal and blast cells were found to be karyotypically normal. Spontaneous remission occurred. CONCLUSIONS: cANLL with karyotypically normal blasts can develop a self-limited clinical course, which has resemblances to TMD.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
7/110. Disseminated choriocarcinoma in infancy is curable by chemotherapy and delayed tumour resection.Infantile choriocarcinoma has a poor prognosis with only 2 surviving children reported in the literature. 2 additional successfully treated children are presented. 2 infants (age 3 and 4 months at diagnosis) suffering from rapidly progressive choriocarcinoma with widespread haematogenous metastases involving the liver were treated according to the cooperative germ cell tumour treatment protocol (MAKEI 96) of the German Society of Pediatric Oncology and hematology (GPOH). PEI-chemotherapy (cisplatin, etoposide, ifosfamide; no ifosfamide before the age of 4 months) was combined with delayed tumour resection. Treatment resulted in sustained remission in both children (event-free survival 42 and 40 months). interphase fluorescent in situ hybridisation (FISH) analysis of the paraffin-embedded tumour sample from case one revealed four to eight copies of chromosomes X, 1 and 17 and two Y chromosomes. Hybridisation with sub-telomere and centromere specific probes for chromosome 1 displayed an imbalance between the short and long arms of chromosome 1. In the tumour cells from case 2, only a polysomy of chromosome X could be proven, other aberrations were not analysed in this case for technical reasons.- - - - - - - - - - ranking = 5keywords = chromosome (Clic here for more details about this article) |
8/110. Absence of connections between spinal nerves and the spinal cord in a twin fetus: a very rare malformation occasionally evidenced at autopsy.We describe a rare case of spinal cord malformation in a dichorionic diamniotic twin fetus aborted at 20 weeks' gestation due to acute chorioamnionitis with placental dysmaturity probably caused by a maternal viral infection. At autopsy, there were no connections between the spinal nerves and the spinal cord. The spinal cord lacked the posterior median fissure and gray matter; only a few neurons were present in the anterior and lateral gray columns. No chromosome anomalies were found. Although we cannot reconstruct the pathogenetic chain of events leading to this malformation, we believe that it is correlated with a maternal viral infection. We hypothesize that this viral infection altered the delicate balance between the factors inducing and those inhibiting fetal spinal neural differentiation.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
9/110. Monozygotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular patterning.Monozygotic twins with chromosome 22q11 microdeletions offer an ideal situation to observe the association of microdeletion and disrupted cardiovascular patterning. We report monozygotic twins concordant for 22q11.2 microdeletion but discordant for cardiovascular patterning. Both twins showed identical intracardiac defects including tetralogy of fallot with pulmonary atresia. Nevertheless, their great vessel patternings were variable. These twins show that the mispatterning of the great vessels may not correlate with intracardiac morphogenesis. The discordant development of the great vessels, especially in the pulmonary vascular system, has clinical significance for prognosis. The phenotypic variability of cardiovascular anomalies seen in 22q11 microdeletion cannot be explained on the basis of genotypic difference.- - - - - - - - - - ranking = 5keywords = chromosome (Clic here for more details about this article) |
10/110. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
| | Next -> |