1/49. De novo complete trisomy 5p: clinical report and FISH studies.We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific dna probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements.- - - - - - - - - - ranking = 1keywords = trisomy (Clic here for more details about this article) |
2/49. Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged to chromosome 6. Although it has been suggested that 6p25 is the critical band involved in the expression of the phenotype of 6p duplication, comparison of the clinical findings of this case with those from the literature cases showed strong similarities.- - - - - - - - - - ranking = 2.8015219094967keywords = partial trisomy, trisomy (Clic here for more details about this article) |
3/49. Apparent sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.We report on a child with apparent sotos syndrome (cerebral gigantism) and partial duplication of the short arm of chromosome 20 mosaicism. trisomy 20p11.2-p12.1 was diagnosed using cytogenetic and FISH studies. The somatostatin receptor 4 (SSTR4) gene is included in the duplicated segment. This suggests that a dosage effect of this gene might be related to some of the clinical findings observed in our patient. The present observation emphasizes the importance of chromosome analysis in patients with well-delineated but sporadic conditions.- - - - - - - - - - ranking = 0.57142857142857keywords = trisomy (Clic here for more details about this article) |
4/49. insulin-like growth factor serum concentrations reflect insufficient growth in a hypoplastic infant with partial trisomy 9q in the 12th week of life.This report presents changes of IGFs and IGFBPs in a female infant with partial trisomy 9q in the 12th week of life. Studying deficient growth in this hypoplastic infant (birth weight 1405 g, birth length 36 cm) with dysmorphic features, the following changes in IGFs and IGFBPs were detected (microg/l): IGF-I: 26.5 vs 48.1 in healthy infants; IGF-II: 420 vs 728; IGFBP-2: 931 vs 524; IGFBP-3: 800 vs 1070. This demonstrates that IGFs and IGFBPs may reflect individual insufficient growth even at this early age.- - - - - - - - - - ranking = 3.5019023868708keywords = partial trisomy, trisomy (Clic here for more details about this article) |
5/49. Unbalanced 4;6 translocation and progressive renal disease.Two sibs are described with an unbalanced 4;6 translocation resulting in partial trisomy 6p and monosomy for distal 4p. growth retardation, psychomotor retardation, and characteristic facial appearance are present. The facial anomalies include high prominent forehead, blepharoptosis, blepharophimosis, high nasal bridge, bulbous nose, long philtrum, small mouth with thin lips, and low-set ears. Both children have small kidneys and have had proteinuria since early childhood. The older boy developed progressive renal disease including hypertension and renal failure necessitating renal transplantation at age 18 years. Renal biopsy of the younger girl also indicates significant renal involvement. Progressive renal disease is likely an important part of the trisomy 6p phenotype.- - - - - - - - - - ranking = 0.28571428571429keywords = trisomy (Clic here for more details about this article) |
6/49. Schinzel-Giedion syndrome.A 2-month-old girl was brought to the Department of pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young healthy non-consanguineous parents whose first son was healthy but whose second son had died of 18 trisomy. physical examination showed midfacial hypoplasia with coarse dysmorphic features, choanal stenosis, remarkable abdominal distention and bilateral talipes equivarus. Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve renal functions and to eliminate the urinary tract infection at the age of 3 months.- - - - - - - - - - ranking = 0.14285714285714keywords = trisomy (Clic here for more details about this article) |
7/49. Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.Whereas in the great majority of autosomal duplications/deficiencies a clinically recognizable dysmorphic syndrome is present, distal 3p duplication is not associated with major dysmorphic signs. We present the clinical data and molecular cytogenetic findings in two non-related patients. diagnosis was made in a female child at the age of 5 months because of psychomotor retardation and slight dysmorphism. She also presented hydronefrosis and develops no speech at the age of almost 4 years. Her partial trisomy is the result of an inverted duplication 3p22-->3pter (dup(3)(pter-->p26::p22(p26::p26-->ter)). An adult woman was diagnosed at the of 80 years only on the basis of mental retardation and poor speech development, but without evident dysmorphism. In this patient the partial 3p trisomy is the unbalanced product of a 3p/17p translocation: t(3;7)(p253;p133).- - - - - - - - - - ranking = 1.9860947630885keywords = partial trisomy, trisomy (Clic here for more details about this article) |
8/49. Further clinical delineation in trisomy 1q32 syndrome.A male newborn with multiple congenital abnormalities was studied. Clinically, he showed prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies. The cytogenetic studies demonstrated a karyotype 46,XY, der(18) t(1;18)(q32;p11.3)pat with partial trisomy 1q32-qter and a monosomy 18p. The patient displayed clinical features of trisomy 1q but not of monosomy 18p. There are around 80 reports of trisomy 1q32. The purpose of this paper is to describe the first case of a translocation involving 1q and 18p chromosome breakpoints. Additional findings detected in the propositus permit us a further delineation of the trisomy 1q syndrome.- - - - - - - - - - ranking = 1.7003804773742keywords = partial trisomy, trisomy (Clic here for more details about this article) |
9/49. neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.A 1-year-old female child with multiple dysmorphic features including microcephaly, hypertelorism, a short philtrum, low set ears, a narrow high arched palate, micrognathia and growth retardation was found to have a de novo chromosome abnormality including a partial duplication of the short arm of chromosome 2 and a partial deletion of the long arm of chromosome 17. The clinical features of the case shared many similarities to previous reports of trisomy 2p. Three years later, ecchymotic spots appeared around the left ocular region. Further clinical and pathological examination confirmed the diagnosis of a neuroblastoma. This is the first case of an unbalanced translocation, 46, XX, der (17), t (2; 17) (p23; q25), showing the development of a neuroblastoma in addition to the dysmorphic features. We suggest that trisomy 2p including the N-myc proto-oncogene may have predisposed the patient to the development of a neuroblastoma.- - - - - - - - - - ranking = 0.28571428571429keywords = trisomy (Clic here for more details about this article) |
10/49. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child.We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 16q, and segregating in a family with stillbirths, early pregnancy losses, and two dysmorphic and slightly retarded babies. FISH analysis showed a 46,XY,der(2)t(2;16)(q37.3;q24.3) in the propositus, and a balanced t(2;16) in his mother, her conceptus and maternal grandfather. FISH with YACs and BACs made it possible to map the 2q37 breakpoint precisely between the regions covered by y952E1 and y746H1, and the 16q breakpoint between the regions encompassed by bA 309g16 and bA 533d19. The contribution of 2q37.3 monosomy and 16q24.3 trisomy to the proband's phenotype is compared with that in reported patients with similar imbalances of either chromosome.- - - - - - - - - - ranking = 0.14285714285714keywords = trisomy (Clic here for more details about this article) |
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