1/13. tetralogy of fallot associated with chromosome 22q11.2 deletion in adolescents and young adults.PURPOSE: To clarify the clinical profiles of adolescents and young adults with tetralogy and 22q11.2 deletion, which has recently been identified as a cause of tetralogy of fallot in about 15% of patients. methods: Thirty-four patients with 22q11.2 deletion and tetralogy of fallot, with or without pulmonary atresia, including 15 males and 19 females, with their age ranging from 16 to 35 years (mean = 25) were studied. Main outcome measurements include chromosome deletion identified by fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes, medical states assessed with new york heart association classification, social activity assessed with Warnes index, IQ assessed by Wechsler test. RESULTS: Eighteen of 20 patients with tetralogy and pulmonary stenosis had cardiac repair, and their cardiac conditions were good except one. Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac repair and were doing well, although 4 of them needed re-operation for conduit stenosis. No cardiac repair was done in the other 7 patients with tetralogy, pulmonary atresia and major collateral arteries because their peripheral pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social activity was limited because of extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia. The IQ in 17 patients was 59 /- 13 (mean /- SD): range 41 to 79. In two patients, repeated IQ study showed a decrease. Four patients developed schizophrenia. CONCLUSION: Tetralogy with 22q11 deletion can be repaired surgically except in those patients with pulmonary atresia, major collateral arteries, and small peripheral pulmonary arteries. However, most of the adult patients show an inability to function in social life in contrast to most patients with tetralogy but without the deletion, who have a normal social life. Extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia were major handicaps limiting full social activities in postoperative adolescents and young adults with 22q11.2 deletion and tetralogy.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/13. prenatal diagnosis of tetralogy of fallot associated with chromosome 22q11 deletion.Microdeletion of 22q11 is responsible for digeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of fallot. karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of fallot.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/13. Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.mosaicism for tandem duplications is rare. Most patients reported had abnormal phenotypes of varying severity, depending on the chromosomal imbalance involved and the level of mosaicism. Post-zygotic unequal sister-chromatid exchange has been proposed as the main mechanism for tandem duplication mosaicism. However, previous molecular analyses have implicated both meiotic and post-zygotic origins for the duplication. We describe a newborn male who was originally diagnosed in utero with arrhythmia and tetralogy of fallot. He had multiple dysmorphic features including telecanthus, blepharophimosis, high broad nasal bridge with a square-shaped nose, flat philtrum, thin upper lip, down-turned corners of the mouth, high-arched palate, micrognathia, asymmetric ears, and long, thin fingers and toes. karyotyping of peripheral blood lymphocytes showed mosaicism for a tandem duplication of part of the long arm of one chromosome 5: mos46,XY,dup(5)(q13q33)[6]/46,XY[45]. Fibroblast cultures had the same mosaic karyotype with a higher frequency of the dup(5) clone: mos46,XY,dup(5)(q13q33)[9]/46,XY[21]. fluorescence in situ hybridization analysis with a wcp5 confirmed the chromosome 5 origin of the additional material. Parental karyotypes were normal indicating a de novo origin of the dup(5) in the proband. Molecular analyses of chromosome 5 sequence-tagged-site (STS) markers in our family were consistent with a post-zygotic origin for the duplication. Therefore, mosaicism for tandem duplications can arise both through meiotic or mitotic errors, as a result of unequal crossing over or unequal sister-chromatid exchange, respectively. Our review indicates that mosaicism for tandem duplications is likely under-ascertained and that parental karyotyping of probands with non-mosaic tandem duplications should be performed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/13. prenatal diagnosis of de novo terminal deletion of chromosome 7q.OBJECTIVES: To present the prenatal diagnosis and perinatal findings of a de novo terminal deletion of chromosome 7q. CASE: amniocentesis was performed at 21-weeks gestation owing to a positive result of maternal serum multiple-marker screening. The 30-year-old woman, gravida 2, para 1, had a maternal serum multiple-marker screening test at 18-weeks gestation. The risk of down syndrome was 1/11 calculated from the gestational age, maternal age, a maternal serum alpha-fetoprotein level of 1.026 multiples of the median (MOM), and a maternal serum free beta-human chorionic gonadotrophin (hCG) level of 8.678 MoM. cytogenetic analysis of the cultured amniotic fluid cells revealed a de novo terminal deletion of 7q, 46,XX,del(7)(q35). ultrasonography showed intrauterine growth restriction, microcephaly, and tetralogy of fallot. The pregnancy was terminated subsequently. Grossly, the placenta was normal. On autopsy, the proband additionally manifested a prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissures, a flat and broad nasal bridge, micrognathia, large low-set ears, overriding toes, and a normal brain. radiography demonstrated a normal spine. fluorescence in situ hybridization analysis demonstrated a 7q terminal deletion. Genetic marker analysis showed a maternally derived terminal deletion of chromosome 7(q35-qter). CONCLUSION: Fetuses with a de novo 7q terminal deletion may be associated with a markedly elevated maternal serum hCG level and abnormal sonographic findings of intrauterine growth restriction, microcephaly, and congenital heart defects in the second trimester.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/13. A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).In seven cases additional minute chromosomes studied by FISH were identified as no. 3, 11, 15, 18, 21 and X. Findings were unexpected except for partial trisomy 21 in an adolescent with minor features of Down's syndrome. Moreover, an i(18p) in a mentally retarded dysmorphic child and an idic(15) in a child with Fallot tetralogy was confirmed. In a child with r(21), a supernumerary marker was shown to be derived from no. 21, while in the mother an additional marker idic(22) was noted.- - - - - - - - - - ranking = 4keywords = hybridization (Clic here for more details about this article) |
6/13. A female with complete lack of Mullerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?We report a 19-year-old, non-amish Caucasian female patient with primary amenorrhea caused by complete lack of Mullerian fusion with vaginal agenesis or Mullerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of fallot. The genital tract anomaly of MA with and without renal or skeletal anomalies comprises Mayer-Rokitansky-Kuster-Hauser syndrome, which has not been reported with tetralogy of fallot. The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern. While upper reproductive tract anomalies have not been reported with MKS, they have been reported with bardet-biedl syndrome (BBS), a syndrome that significantly overlaps with MKS. Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7). To address this heterogenity, we sequenced the causative genes in MKS and BBS but no mutations in these five genes were identified. fluorescence in situ hybridization (FISH) excluded large deletions of chromosome 20p12 and microsatellite marker studies confirmed biparental inheritance for all of the known BBS loci. The dual midline fusion defects of tetralogy of fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/13. Refining chromosomal region critical for down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.We report here a patient with features of down syndrome and tetralogy of fallot who had a 21q22 duplication. The extent of the duplication was defined using fluorescent hybridization probes that map to the critical region on chromosome 21. Included within the interval was the cell adhesion molecule DSCAM but not the collagen COL6A1. The present case provides further support to the concept that there exists down syndrome-associated congenital heart disease gene(s) on chromosome 21q22 and that over-expression of DSCAM may contribute to the cardiac defects of down syndrome.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/13. A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies.A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as fluorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/13. Shprintzen (velo-cardio-facial) syndrome: a rare case.Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty. Tendency to behavioral disorders and bipolar schizophrenic diseases may be present in these cases. Autosomal dominant inheritance has been reported. VCFS appears as a consequence of microdeletion in the 22q11 chromosomal band. Although each syndrome has different clinical reflections, genetically the defect is located on the same chromosome.A 4-year-old boy was admitted to our clinic with a syndromic face and the diagnosis of tetralogy of fallot. The patient underwent total correction of the cardiac defect. Atypical facial appearance, cleft palate, and malformed hand-fingers were present. With the aid of pediatric and genetic consultation (fluorescence in situ hybridization test), Shprintzen syndrome was confirmed. Both early and late postoperative periods of the patient were uneventful. The patient was closely consulted by a specialist psychologist during and after the hospitalization period.These children can be integrated into social life earlier through early surgical intervention for cardiac defects and facial deformations as well as neurologic and/or neuropsychiatric evaluation.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/13. trisomy 22 confirmed by fluorescent in situ hybridization.We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.- - - - - - - - - - ranking = 4keywords = hybridization (Clic here for more details about this article) |
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