Cases reported "Angelman Syndrome"

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1/92. angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

    We report a case of angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD. ( info)

2/92. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with angelman syndrome caused by an imprinting defect.

    The clinical features of angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having prader-willi syndrome. dna methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism. ( info)

3/92. Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with angelman syndrome with no ocular features of albinism.

    An 8-month-old boy with global developmental delay, including visual and hearing inattention, was examined in the ophthalmic clinic. Monocular flash visual evoked potentials demonstrated a crossed asymmetry in scalp distribution, a feature considered to be pathognomic of albinism. Remarkably a foveal reflex was noted in each eye and this patient did not have nystagmus, iris transillumination, nor conspicuously pale fundi. The optic discs appeared normal. He was noted to have very fair skin and hair, with a small head and flat occiput. Cytogenetic studies demonstrated a microdeletion of the maternal chromosome 15q11-q13, and he was diagnosed with angelman syndrome. ( info)

4/92. Investigation of a cryptic interstitial duplication involving the Prader-Willi/angelman syndrome critical region.

    A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region. ( info)

5/92. EEG--a valuable tool in early diagnosis of angelman syndrome.

    angelman syndrome (happy puppet syndrome) is one of the genetic diseases causing developmental delay in children. Late diagnosis used to be the rule because of delayed appearance of disease markers such as craniofacial dysmorphism, ataxia, unprovoked laughter and seizure. However, reports have described characteristic EEG changes such as 2-3 Hz large amplitude slow wave paroxysms which appear early and are quite specific to the syndrome. With EEG aid, we made very early diagnosis in a 9 month-old young infant. And we would like to advocate the use of EEG study in cryptogenic psychomotor retardation in children. ( info)

6/92. Ophthalmic manifestations of angelman syndrome.

    In 1965, Angelman described 3 cases of what he called "Puppet" children, named for the characteristic signs associated with what is now known as angelman syndrome, including mental retardation, speech impairment, easy excitability, and frequent spontaneous laughter.(1) Since that report, much progress has been made in defining the syndrome's clinical manifestations and understanding its molecular foundations, including identification of deletions of 15q11-13 in some patients. There are few reports in the ophthalmic literature regarding ocular manifestations of this syndrome. (2,3) We present the case of a child with strabismus associated with angelman syndrome, and we review the ophthalmic and systemic findings, as well as recent advances in molecular genetics, in these patients. ( info)

7/92. An unexpected recurrence of angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

    angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally normal, whereas the patients and their unaffected brother shared an identical maternally derived haplotype outside the deletion region. These findings are suggestive of maternal germ-line mosaicism of del(15)(q11q13). ( info)

8/92. fluorescence in situ hybridization detectable mosaicism for angelman syndrome with biparental methylation.

    We present a child with mild to moderate global developmental delay including severe speech impairment, inappropriate happy demeanor, wide-based gait, frequent ear infections with mild hearing loss, deep-set eyes, a wide mouth, widely-spaced teeth, normal head circumference, and no seizures. Results of peripheral blood lymphocyte chromosomal analysis with GTG banding were normal. However, fluorescence in situ hybridization (FISH) studies showed mosaicism for a deletion of probes (D15S10 and SNRPN) from the angelman syndrome (AS) critical region with approximately 40% of peripheral lymphocytes having the deletion. The deleted chromosome 15 also showed centromeric duplication, which was detected with a D15Z1 probe [46,XX, dic(15)(pter-->q11.1::p11.2-->q11. 1::q13-->qter)]. The same duplication pattern was observed in 30% of the nuclei obtained from a buccal smear. Methylation studies using polymerase chain reaction with sodium bisulfite-treated DNA demonstrated a normal biparental methylation pattern. To the best of our knowledge, this is the first case with AS and a FISH detectable deletion in a mosaic pattern. We recommend FISH studies for the detection of mosaicism in the patients with AS clinical findings even if results of the methylation studies are normal. ( info)

9/92. angelman syndrome in three adult patients with atypical presentation and severe neurological complications.

    angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather aspecific. We report on AS in 3 severely to profoundly mentally retarded patients, who developed severe neurologic complications of severe tremor, spasticity and coordination problems, resulting into severe loss of function. They presented atypical craniofacial features, short stature, epileptic seizures, microcephaly, brachytelephalangy and absent speech. Two patients presented at an older age a change in day-night rhythm. Based on this experience, we conclude that all severely to profoundly mentally retarded patients with atypical phenotype, spasticity, absent speech, epileptic seizures and changed day-night rhythm are candidates for further cytogenetic and molecular investigation for AS. Clinical photographs of the patient at a younger age can be helpful. The presence of the typical EEG pattern with frontal triphasic delta waves may direct to the diagnosis of AS. ( info)

10/92. fertility in prader-willi syndrome: a case report with angelman syndrome in the offspring.

    We report on a 32-y-old woman with prader-willi syndrome (PWS) and her daughter with angelman syndrome (AS). PWS in the mother was confirmed as due to a deletion of 15q11-q13, and molecular analysis in the neonate indicated an inherited maternal deletion of the same region. Features of AS in early infancy, such as jerky movements, feeding problems and poor sleep, were observed. At 5 mo of age, a triphasic high voltage EEG pattern was reported. Conclusions: This case confirms the non-Mendelian inheritance of PWS and AS and, in addition to previous reports, provides evidence of fertility in PWS women. We recommend the provision of information regarding fertility in females with PWS to parents, guardians and individuals with PWS, and frequent EEG monitoring for early AS diagnosis. Given the different genetic aetiologies for PWS and AS, cytogenetic and molecular genetic analysis is strongly indicated for counselling and risk estimation. ( info)
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