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1/18. siblings of retinoblastoma patients: are we underestimating their risk?

    PURPOSE: To describe the clinical presentation of probable germ-line mosaicism in four retinoblastoma kindreds. methods: review of 255 retinoblastoma patients and their family records in a University of california, san francisco-Bascom Palmer database to identify those with potential germ-line mosaicism. parents and siblings of retinoblastoma patients were given comprehensive ophthalmologic examinations. RESULTS: Four kindreds were identified, wherein retinoblastoma was diagnosed in two siblings and both parents demonstrated no evidence of retinoblastoma or retinocytoma. CONCLUSION: Clinical appearance of germ-line mosaicism is demonstrated in our retinoblastoma patient populations. We recommend routine clinical screening of all parents and siblings of retinoblastoma patients to provide more accurate genetic counseling and to allow earlier examination and treatment of children at presymptomatic disease stages. Germ-line mosaicism must be considered as a genetic transmission pattern in these patients, and genetic counseling should specifically recognize this possibility. If a parent is germ-line mosaic, the possibility of bearing a second child with retinoblastoma is clearly higher than conventionally believed.
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2/18. Colpocephaly in two siblings: further evidence of a genetic transmission.

    Colpocephaly is an abnormal congenital enlargement of the occipital horns of the lateral ventricles, which has typically been associated with learning disability, seizures, and motor and visual abnormalities. This study describes familial colpocephaly in two siblings with different fathers in a Dominican family. There were no other neurological problems in their relatives. child 1 is a 7-year-old girl, who has had partial epileptic seizures since 4 years of age. She attends a mainstream school. She has coloboma and chorioretinic atrophy in her right eye and a right microphthalmia. MRI revealed colpocephaly and hypogenesis of the corpus callosum. Her brother, aged 2 years 8 months showed a mild delay in speech acquisition. He has had three febrile convulsions and two non-febrile tonic-clonic seizures since 6 months of age. Neurological and ophthalmological examinations were normal. MRI documented colpocephaly with right occipital horn prevalence. There are only two literature reports of genetically transmitted colpocephaly hypothesised in two identical twins and in two brothers. In the children in this study, a genetic basis for colpocephaly is confirmed. We hypothesised a maternal transmission with X-linked or autosomal dominance with an incomplete penetrance model of inheritance.
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3/18. microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia. A report of 3 cases.

    BACKGROUND, AIMS: Congenital neutropenia is one condition that may predispose for destructive periodontal disease at a young age. In this report, we describe the microbiology of 3 adolescent patients with congenital neutropenia two of whom suffered from severe periodontitis. METHOD: Microbiological testing of the parents was also performed in 1 case. dna fingerprinting was used to study transmission of putative periodontal pathogens in this case. From 1 patient with periodontitis, actinobacillus actinomycetemcomitans and porphyromonas gingivalis were isolated; a 2nd periodontitis patient was infected with P. gingivalis. A 3rd patient had gingivitis only and no A. actinomycetemcomitans or P. gingivalis were found. RESULTS: Using the amplified fragment length polymorphism dna fingerprinting technique, bacterial transmission between the father and a patient was shown for A. actinomycetemcomitans but not for P. gingivalis.
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keywords = transmission
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4/18. Extensive human papillomavirus type 7-associated orofacial warts in an immunocompetent patient.

    Human papillomavirus (HPV) type 7 is frequently found in butchers' warts and has been demonstrated in oral and facial warts of hiv-infected patients. The reservoirs of HPV7 and the route of transmission are still unclear. Here we describe an hiv-negative, otherwise healthy patient with extensive, recurrent orofacial papillomatosis whose immune status proved to be normal and who had no history of meat handling. HPV7 L1 gene DNA that differed in 3 point mutations from the HPV7 prototype could be detected in 2 morphologically distinct, perioral lesions by different PCR protocols. in situ hybridization confirmed the presence of HPV7 DNA in the nuclei of vacuolated cells of the granular layer. Our data show that HPV7 can lead to perioral, spiky warts and brownish plaques in immunocompetent patients who had never been working as a meat or fish handler.
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5/18. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.

    At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had developed weakness of the legs and hands after the age of 50 years. The patient's parents were healthy, but the mother's quadriceps muscle showed an increased spectrum of muscle fibre diameters. Our patient, thus, had a neuromuscular disorder, perhaps familial, presenting as a mixed congenital myopathy, i.e., reducing body myopathy with cytoplasmic bodies, of which the morphological lesions could be consistently documented over several years in his different limb muscles. While other mixed congenital myopathies had shown cores and rods, both related to sarcomeres and thus possibly morphogenetically related, cytoplasmic bodies thought to be related to Z-bands and reducing bodies dissimilar to any muscle fibre constituent do not share any common denominator. Therefore, we suggest that this neuromuscular disorder may be a unique mixed congenital myopathy, either sporadic or genetic. In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out.
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ranking = 2
keywords = transmission
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6/18. Familial occurrence of subacute thyroiditis.

    Although subacute thyroiditis (de Quervain's thyroiditis) is presumed to be caused by a viral infection, only 2 familial occurrences of subacute thyroiditis have been reported in the literature. Typical and severe subacute thyroiditis was diagnosed in an older sister who was hospitalized for 8 days. During this period her younger sister nursed her. Three weeks after, the same clinical picture occurred in the younger sister. We postulate that subacute thyroiditis might occur by transmission of possible viral infection in genetically predisposed individuals.
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7/18. Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.

    Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both father and daughter were affected, an example of pseudo-dominant transmission. The daughter was a compound heterozygote for a new nonsense mutation (R207X) and a new missense mutation (R602Q) while her father was homozygous for the R207X mutation. The mother carried only the R602Q mutation and was an asymptomatic heterozygote. In the second family, the only affected member was homozygous for the R207X mutation. This first molecular genetic study of McArdle's disease in Yemenite-Jewish patients expands the already remarkable genetic heterogeneity of McArdle's disease and suggests the existence of ethnic or private mutations within this group.
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8/18. Insertion/deletion coding polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese population.

    hepatitis a virus receptor (HAVcr-1) and T-cell immunoglobulin- and mucin-domain-containing molecule (TIM)-3 were recently implicated as asthma susceptibility genes in the study of congenic mice. In a genome-wide screen, we found strong evidence for linkage of atopic asthma with marker D5S820, located approximately 0.5 Mb from hHAVcr-1 and human TIM3. We screened for mutations in human HAVcr-1 (hHAVcr-1) and in TIM3 and found seven, including two insertion/deletion polymorphisms, in hHAVcr-1 and two in TIM3. We conducted transmission disequilibrium tests (TDTs) in families identified through children with atopic asthma. None of the hHAVcr-1 allele were transmitted preferentially to asthma-affected children (P>0.1). In quantitative TDT analysis, no association was observed between the log[total IgE] and either allele of the hHAVcr-1 polymorphism (P>0.1). The two TIM3 mutations were rare in the Japanese population, occurring in only one of 48 unrelated asthmatic subjects. Our results indicate that hHAVcr-1 polymorphisms are not likely to be associated with the development of atopy-related phenotypes in the Japanese population.
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keywords = transmission
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9/18. Maternal transmission of a ring chromosome 15.

    A 5-year-old boy with silver-Russell-like phenotype and developmental delay was found to have a ring chromosome 15. The same r(15) was found in his slightly mentally retarded mother with mild dysmorphism. Analysis of the literature showed 34 families with direct vertical transmission of a ring autosome. In 30 of these families abnormal chromosomes were inherited from the mothers; both maternal and paternal transmission was shown in different generations of one family; and only in 3 families ring chromosomes were inherited from the fathers. The possible explanations of preponderance of maternal transmission are briefly discussed.
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ranking = 7.171795116665
keywords = transmission, vertical
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10/18. Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene.

    Hyperpigmented atrophoderma arranged in a pattern following the lines of Blaschko and appearing during childhood or adolescence on the trunk or the limbs is a characteristic feature of linear atrophoderma of Moulin. We review 15 published reports and describe 4 additional cases. Histopathologically, there is no clear sign of atrophy found in specimens examined by light microscopy. It might well be argued that a focal reduction of subcutaneous fatty tissue contributes to the obvious clinical atrophy. The cause and pathogenesis of the disorder remains unknown. It may reflect mosaicism caused by a postzygotic mutation that occurred at an early developmental stage, in analogy to many other diseases distributed along Blaschko's lines. Linear atrophoderma of Moulin may reflect the action of an autosomal lethal gene surviving by mosaicism. There are so far no reports of a familial occurrence that could favor a paradominant transmission of linear atrophoderma of Moulin. However, theoretically, the postzygotic mutation giving rise to an aberrant cell clone could still be nonlethal. In a heterozygous individual, a postzygotic mutational event might lead to loss of the corresponding wild-type allele at the atrophoderma locus. This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life.
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keywords = transmission
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