Cases reported "Abnormalities, Multiple"

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1/57. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

    The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-type dna-binding domain. The paired domain is composed of two distinct dna-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus dna sequences. The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain. The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the dna-binding activity of the NTS and unmasks the dna-binding ability of the CTS. Thus, exon 5a appears to function as a molecular switch that specifies target genes. We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region. A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region. Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.
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2/57. Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities.

    We present the use of a multipaint fluorescence in situ hybridisation (FISH) approach for the detection and interpretation of chromosome abnormalities that could not be resolved by conventional cytogenetics alone. In case 1, a de novo add(Xp) was shown to be an unbalanced X;12 translocation; in case 2, a complex rearrangement involving a deletion of 5p was shown to include a previously undetected cryptic 5;6 translocation. In addition, in case 3, this technique defined additional complexities and nine breakpoints in an acquired rearrangement of chromosomes 2, 9, 11, 16 and 22 in a patient with myelodysplasia. The technique allows the simultaneous identification of up to 24 chromosomes on a single slide using FISH with directly labelled whole chromosome paints. This simple and rapid method does not require image enhancement, produces results within 48 h and, therefore, offers an alternative to other recent developments, such as combinatorial multifluor FISH, spectral karyotyping or comparative genomic hybridisation.
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3/57. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of silver-russell syndrome.

    silver-russell syndrome (SRS) has been associated with maternal uniparental disomy (UPD) of chromosome 7 in approximately 10% of cases, suggesting that at least one imprinted gene on chromosome 7 is involved in the pathogenesis of the disease. We report a proximal 7p interstitial inverted duplication in a mother and daughter both of whom have features of SRS, including marked short stature, low birth weight, facial asymmetry and 5th finger clinodactyly. fluorescence in situ hybridisation (FISH) with YAC probes enabled delineation of the duplicated region to 7p12.1-p13. This region of proximal chromosome 7 is known to be homologous to an imprinted region in the mouse chromosome 11 and contains the growth-related genes GRB10 (growth factor receptor-bound protein 10), EGFR (epidermal growth factor receptor) and IGFBP1 (insulin-like growth factor binding protein 1), all of which have been suggested as candidate genes for SRS. Molecular analysis showed that the duplication in both mother and daughter spanned a distance of approximately 10 cM and included GRB10 and IGFBP1 but not EGFR. The de novo duplication in the proband's mother was shown to be of paternal origin. In order to test the hypothesis that sub-microscopic duplications of 7p, whether maternal or paternal in origin, are responsible for at least some cases of SRS, we screened a further eight patients referred to our laboratory for SRS. None were found to have duplications of either GRB10 or IGFBP1. The hypothesis that sub-microscopic duplications including GRB10 and IGFBP1 is a cause of SRS remains a possibility and warrants further investigation. Importantly, in contrast to current thinking, our results suggest that imprinted genes may not underlie the SRS phenotype, and we propose an alternative hypothesis to explain the occurrence of maternal UPD 7 seen in some cases of SRS.
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4/57. Considerations in biventricular repair after the Norwood procedure.

    OBJECTIVE: The Norwood procedure can be applicable as a first stage palliation in children who can eventually undergo a biventricular repair. Although usual management of these patients is a primary neonatal repair, in selected patients staged approach with a Norwood procedure in the neonatal period followed by a Rastelli procedure in the infancy for conversion to two-ventricle physiology has been used alternatively. methods: We report our experiences on two infants who underwent a previous palliation with the Norwood procedure for lesions other than hypoplastic left heart syndrome and converted to two-ventricle physiology by the use of a Rastelli-type procedure. This report examines considerations in biventricular repair after the Norwood procedure especially need for ventricular septal defect enlargement and approach to placement of the right ventricle to pulmonary artery conduit. RESULTS: Both of the infants who underwent staged approach with an initial Norwood procedure for lesions other than hypoplastic left heart syndrome survived the operations and were clinically well at mid-term follow-up. CONCLUSION: In selected patients, the staged approach is an alternative in management of malformations other than hypoplastic left heart syndrome which share the important physiologic features of aortic outlet obstruction and ductal dependency of systemic circulation. We recommend routine enlargement of ventricular septal defect and proper positioning of the conduit at the time of subsequent biventricular repair.
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5/57. Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome).

    We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in japan, and as far as we know, this is the first case reported in italy. In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. The metacarpophalangeal profile showed a generalized brachydactyly with all the hand long bones below x3 SD. The patient's father showed a peculiar kind of micronychia on both the fifth toes, suggesting a possible autosomal dominant transmission of the syndrome. In utero ischemia of the palmar digital artery and a dysplastic change in the crescent-shaped cap of the distal phalanx are the two main candidate pathogenetic mechanisms that have been proposed. In our opinion, the gradual broadening of the spectrum of this syndrome brings support to the hypothesis of a basal dysplastic pathogenetic mechanism involving not only the index fingers but also perhaps other tissues outside. We think that for the moment the definition of COIF for this syndrome should be maintained, the alternative proposed term "congenital onychodysplasia" being too indefinite.
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6/57. Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

    There is increasing evidence that cytogenetically invisible chromosome rearrangements are an important cause of genetic disease. Clues to the chromosomal location of these rearrangements may be provided by a specific clinical diagnosis, which can then be investigated by targeted FISH or molecular studies. However, the phenotypic features of some microdeletion syndromes are difficult to recognise, particularly in infants. In addition, the presence of other chromosome aneuploidy may mask the typical clinical features. In the present study, the presence of tubers on cranial magnetic resonance imaging (MRI) of a 5-week-old infant prompted an investigation, by FISH, with probes from the tuberous sclerosis gene, TSC2. This and further FISH deletion mapping studies revealed a submicroscopic deletion encompassing the entire TSC2 gene and the adjacent PKD1 gene on one chromosome 16, confirming a del(16)(p13.3). Because of the large number of abnormal phenotypic features in this infant, we performed a 12-colour FISH assay (M-TEL) to screen for subtelomeric rearrangements involving the del(16p). The M-TEL assay revealed a cryptic der(16)t(16;19)(p13.3;p13.3). Further FISH with 19p and 19q subtelomeric probes demonstrated that this was derived from a balanced maternal t(16;19)(p13.3;p13.3). Importantly, 24-colour painting by multiplex FISH (M-FISH) failed to detect the translocation in either the infant or his mother. Based on our FISH mapping studies, we estimate the size of the trisomic region from 19p13.3 to be approximately 2 Mb, and the region of monosomy for 16p13.3 as 2.25 Mb. This case adds to the growing literature which indicates that many apparent chromosomal deletions are unbalanced translocations. The M-TEL assay provides a sensitive alternative to M-FISH for the detection of these subtle telomeric rearrangements.
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7/57. The inheritance of the Aarskog facial-digital-genital syndrome.

    Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.
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8/57. Stenting for SVC obstruction in an infant operated for total anomalous pulmonary venous return.

    Superior vena cava obstruction following corrective repair of total anomalous pulmonary venous return has rarely been described in the literature. A one-month-old boy who underwent corrective surgery for obstructive supracardiac total anomalous pulmonary venous return with consequent symptomatic superior vena cava obstruction in the immediate postoperative period, is reported. This was treated by balloon dilatation followed by stenting of the superior vena cava. The immediate postoperative result was satisfactory and the infant continued to remain asymptomatic at six months follow up. We suggest that this intervention could prove to be a viable alternative to a repeat surgical procedure for such complex cases.
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9/57. Microlissencephaly with cardiac, spinal and urogenital defects.

    We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider syndrome complex; alternatively, or additionally, there may have been a valproate teratogenic effect. The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded.
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10/57. ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.

    The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.
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