1/411. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/411. Partial trisomy D: a diagnostic and cytogenetic dilemma.An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/411. A female case of Kallmann's syndrome.A case of 20-year-old woman with hypogonadotropic hypogonadism and anosmia is reported, since very few female cases of Kallmann's syndrome have been reported so far in japan. Three uncles on the father's side had no children. Height was 168 cm, and arm span 165 cm. The olfactory test revealed complete anosmia. Bone age was 13 year. Chromosome was 46 XX and normal karyotype. Basal levels of serum FSH, LH and estrogens (E1, E2 and E3) were low. serum FSH and LH levels rose slightly only after LH-RH administration, and did not increase in clomiphene test. plasma estrogens did not increase after daily injection of 150 IU of HMG for 3 successive days. The response of serum GH to arginine infusion was normal, while that to insulin-induced hypoglycemia was poor.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/411. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/411. A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).A child with monosomy for the distal part of the short arm of chromosome 3 (3p25-->pter) and trisomy for the terminal portion of the long arm of chromosome 17 (17q23-->qter) is presented. This unbalanced karyotype was derived from a balanced reciprocal 3p/17q translocation in the phenotypically normal mother. Main clinical features in the proband included growth and mental retardation, hypotonia, hirsutism, micro/brachycephaly, triangular face, synophris, broad and full nose, long philtrum, narrow upper lip, low set, posteriorly turned ears, anteriorly placed anus and congenital heart defect (tetralogy of fallot). Most of these clinical manifestations have been constantly reported in previous cases with terminal 3p deletion.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/411. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.We report on a boy with congenital pure red blood cell aplasia [diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/411. Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome.A case of Ewing sarcoma in a 16-year-old girl with 47 XXXc karyotype is reported.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/411. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. fluorescence in situ hybridization (FISH) using micro-dissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY, der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15-->pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2-->pter.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/411. frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.The description of frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause frasier syndrome and are distinct from WT1 exon mutations associated with denys-drash syndrome. The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor. The intron 9 alternative splice donor site mutation seen in frasier syndrome leads to loss of three amino acids ( KTS isoform), thus disrupting the normal ratio of the KTS/-KTS isoforms critical for proper gonadal and renal development. This study examines two sisters with identical intron 9 mutations. The proband carries a classic diagnosis of frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulopathy but a 46,XX karyotype and normal female development. This indicates that the proper WT1 isoform ratio is critical for renal and testicular development, but apparently does not affect either ovarian development or function. It is proposed that the clinical definition of frasier syndrome should be broadened to include 46,XX females with normal genital development and focal segmental glomerulosclerosis associated with a WT1 intron 9 donor splice site mutation. Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with focal segmental glomerulosclerosis and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/411. Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity.A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital ventricular septal defect, glaucoma, and speech disorder is reported. Routine laboratory tests, karyotype, and hormonal profile (IGF 1, growth hormone during provocative testing, thyroid hormones, prolactin, gonadotrophins) were normal. Radiologic skeletal survey did not disclose any abnormality. Both parents were apparently normal, but short in stature.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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