Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Robinson, Wendy P.; Wagstaff, Joseph; Bernasconi, F.; Baccichetti, Carlo; Artifoni, Lina; Franzoni, Emilio; Suslak, Lorraine; Shih, Ling-yu; Aviv, Hana; Schinzel, Albert

doi:10.1136/jmg.30.9.756

Cited by 120 publications

(91 citation statements)

References 24 publications

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“…32 Another probable example of incorrect 'trisomy rescue' comes from a case with PWS and a supernumerary marker chromosome 15 and maternal heterodisomy for that chromosome. 33 A similar mechanism can be assumed for the present case. UPD resulting from nondisjunction and related to advanced maternal age has been reported in the literature.…”

Section: Discussionmentioning

confidence: 83%

Maternal UPD 20 in a hyperactive child with severe growth retardation

et al. 1999

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Maternal uniparental disomy was observed in a 4-year-old boy with severe pre-and postnatal growth retardation (body height: 85 cm = 12 cm < third percentile, head circumference: 48 cm = 10 cm < third percentile), a few minor facial findings, and with apparent hyperactivity. His intelligence is within the normal range for his age. Karyotype analysis revealed two cell lines, one apparently normal with 46,XY, the other with a tiny marker (47,XY, + mar).Microdissection and reverse chromosome painting using the marker DNA library as a probe, as well as PCR analysis revealed that the marker is from chromosome 20 and contains only the centromere and pericentromeric segments, but none of the pericentromeric loci for microsatellites. Microsatellite analysis of 25 chromosome 20 loci disclosed maternal uniparental disomy for all 16 informative markers. Maternal heterodisomy was evident for seven loci of the short arm segment 20p11.2-pter. Maternal isodisomy was found at five loci, three of them map to the proximal 20p11.2 segment and two to 20q. To our knowledge, this is the first case of maternal disomy 20 in humans.

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Section: Discussionmentioning

confidence: 83%

Maternal UPD 20 in a hyperactive child with severe growth retardation

et al. 1999

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“…In a smaller number of cases this region was found in trisomy 4,8,9 . Trisomic patients usually displayed a milder phenotype while tetrasomic patients have more severe clinical features 4,5,13,14 .…”

Section: Discussionmentioning

confidence: 99%

“…These findings suggest an important role for genetic imprinting in susceptibility to autism, which is not unexpected since the 15q11-q13 region is known to be critically imprinted in humans. Both paternal and maternal copies of this region are required for normal development, with loss of the paternal contribution leading to PWS and loss of the maternal contribution resulting in the AS phenotypes 13 . Surprisingly, Mohandas et al 18 reported a paternally derived de novo interstitial duplication of the proximal 15q containing the PWS/AS critical region in a patient with developmental delay, which raises the question as to whether or not all paternal duplications are benign with respect to phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…A large number of 15q11-q13 rearrangements of autistic patients which were evaluated for their parental origin were identified as maternally derived 6,8,10,12,13 . However, in this work is not possible to establish the parental origin of the extra chromosome.…”

Section: Discussionmentioning

confidence: 99%

“…Abnormalities involving this chromosomal region are commonly identified in association to Prader-Willi syndrome (PWS) and Angelman syndrome (AS), usually as chromosomal deletion. Additional copies of this chromosomal segment are less frequently depicted and have been found in distinct phenotypes, including autistic disorder, a few PWS and AS cases 5,13 , and even apparently normal individuals 5,6,14 . This report describes a female patient with autis-tic disorder whose karyotype displayed an extra chromosome, identified by the fluorescence in situ hybridization technique as a der(15) with a duplication of 15q11-q13.…”

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Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Silva

Vayego-Lourenço

Fett‐Conte

et al. 2002

Arq. Neuro-Psiquiatr.

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-We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.KEY WORDS: tetrasomy 15, 15q11-q13, autism, fluorescence in situ hybridization, GABA receptors.Identificação de tetrassomia 15q11-q13 por hibridação in situ fluorescente em uma paciente com distúrbio autístico RESUMO -Relatamos uma criança do sexo feminino com tetrassomia da região cromossômica 15q11-q13 e distúrbio autístico associado com retardo mental, problemas de desenvolvimento e distúrbios comportamentais. A combinação de metodologias da citogenética clássica e molecular pela técnica de hibridação in situ fluorescente, demonstrou o cariótipo como 47,XX,+mar.ish der(15) (D15Z1++,D15S11++,GABRB3++,PML). Duplicação do segmento 15q proximal representa a mais consistente anomalia cromossômica relatada em associação com autismo. A contribuição dos genes das subunidades do recepetor GABA, assim como outros genes mapeados nessa região, para os sintomas clínicos da doença é discutida. PALAVRAS-CHAVE: tetrassomia 15, 15q11-q13, autismo, hibridação in situ fluorescente, receptores GABA.

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Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

et al. 1996

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A variety of distinct phenotypes has been associated with supernumerary inv dup(15) chromosomes. Although different cytogenetic rearrangements have been associated with distinguishable clinical syndromes, precise genotype‐phenotype correlations have not been determined. However, the availability of chromosome 15 DNA markers provides a means to characterize inv dup(15) chromosomes in detail to facilitate the determination of specific genotype‐phenotype associations. We describe 2 patients with an autistic disorder, mental retardation, developmental delay, seizures, and supernumerary inv dup(15) chromosomes. Conventional and molecular cytogenetic studies confirmed the chromosomal origin of the supernumerary chromosomes and showed that the duplicated region extended to at least band 15q13. An analysis of chromosome 15 microsatellite CA polymorphisms suggested a maternal origin of the inv dup(15) chromosomes and biparental inheritance of the two intact chromosome 15 homologs. The results of this study add to the existing literature which suggests that the clinical phenotype of patients with a supernumerary inv dup(15) chromosome is determined not only by the extent of the duplicated region, but by the dosage of genes located within band 15q13 and the origin of the normal chromosomes 15. © 1996 Wiley‐Liss, Inc.

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Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Cited by 120 publications

References 24 publications

Maternal UPD 20 in a hyperactive child with severe growth retardation

Maternal UPD 20 in a hyperactive child with severe growth retardation

Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

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