1/18. Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p.An infant girl was referred for a genetic consultation because of facial appearance suggestive of Wolf-Hirschorn syndrome (WHS), growth retardation and generalized hypotonia. She had an unbalanced karyotype 46,XX,der(4)t(4;9)(p15.2;p22)mat resulting in the deletion of the critical region for WHS and duplication of the critical region for the 9p duplication syndrome. The mother and the grandmother of proposita were the carriers of an apparently balanced translocation 46,XX,t(4;9)(p15.2;p22). The infant's phenotype was characteristic of WHS syndrome rather than that of duplication 9p phenotype. This is probably the first description of WHS phenotype resulting from a familial 4;9 translocation.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/18. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-limited mosaicism for a supernumary 12p isochromosome (i12p). Here we report an unusual case with tetrasomy/trisomy/disomy 12p mosaic in fibroblasts and trisomy/disomy 12p mosaic in lymphocytes. The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. Both marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridization (FISH). Stability under culturing conditions was studied. dna-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome.- - - - - - - - - - ranking = 4keywords = karyotype (Clic here for more details about this article) |
3/18. Joubert syndrome co-existing with partial Xp trisomy: review of the literature.We report a five-year-old girl who has been clinically diagnosed as Joubert syndrome. Her cytogenetic analysis showed 46,XX,der(2)add(2q37) karyotype. cytogenetic analysis of her mother and maternal grandmother revealed a karyogram designated as 46,X,t (X;2)(p11.2;q37). The proband's derivative chromosome was further confirmed to be a translocation chromosome 2 carrying segments from chromosome X, which originated from a segregation event of the maternal grandmother's balanced translocation passed on as a balanced translocation to the proband's mother either. So far, a number of candidate genes including EN1 on 2q were analyzed for Joubert syndrome. Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
4/18. Hypotriploidy 68,XX: a new case report and review of earlier cases.We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other reported cases is given.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/18. First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.We report the identification and characterization of the first supernumerary ring chromosome 10 containing a considerable proportion of 10q euchromatin by microdissection and reverse painting in a female patient presenting with short stature. fluorescence in situ hybridization studies showed that the marker chromosome originates from chromosome 10 and includes the euchromatic bands p11.2 and q11.2. The supernumerary marker chromosome 10 was found in 14% of the peripheral blood lymphocytes analyzed. This constitutional mosaic could be confirmed in oral mucosa cells as a second cell system (16%) by interphase FISH using an alphoid centromeric probe for chromosome 10. Parental karyotypes were normal, uniparental disomy for the normal chromosomes 10 could be excluded by microsatellite analysis. The karyotype of the patient detected in peripheral blood cells can be described as mos 47,XX, mar.rev ish r(10)(p11.2q11.2)(wcp10 ,cep10 )/46,XX.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
6/18. Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.We have studied a male patient with significant developmental delay, growth failure, hypotonia, girdle weakness, microcephaly, and multiple congenital anomalies including atrial (ASD) and ventricular (VSD) septal defects. Detailed cytogenetic and molecular analyses revealed three de novo X chromosome aberrations and a karyotype 46,Y,der(X)inv(X) (p11.4q11.2)inv(X)(q11.2q21.32 approximately q22.2)del(X)(q22.3q22.3) was determined. The three X chromosome aberrations in the patient include: a pericentric inversion (inv 1) that disrupted the Duchenne muscular dystrophy (DMD) gene, dystrophin, at Xp11.4; an Xq11.2q21.32 approximately q22.2 paracentric inversion (inv 2) putatively affecting no genes; and an interstitial deletion at Xq22.3 that results in functional nullisomy of several known genes, including a gene previously associated with X-linked nonsyndromic mental retardation, acyl-CoA synthetase long chain family member 4 (ACSL4). These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/18. 49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case.The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
8/18. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12-year-old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and hypoplastic labia minora. The precise location and extent (3.6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/18. Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state. Two cytogenetically identical markers have been observed only occasionally. We report on a boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features. The GTG karyotype performed on peripheral blood lymphocytes revealed a mosaic male karyotype with three cell lines. One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |
10/18. A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies.A family is reported in which a man with a balanced reciprocal translocation [46,XY,t(7;22)(q32;q13.3)] fathered a daughter who was trisomic for the region 7q32 7qter and monosomic for 22q13.3 22qter, and a male fetus who was monosomic for 7q32 qter and trisomic for 22q13.3 22qter. The meiotic segregation of this translocation, as well as the phenotypes of the unbalanced offspring, are discussed.- - - - - - - - - - ranking = 4keywords = karyotype (Clic here for more details about this article) |
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