Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Luciani, Judith

doi:10.1136/jmg.40.9.690

Cited by 121 publications

(147 citation statements)

References 51 publications

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“…Similarly, several cases of ring chromosome 22 were associated with NF2 and increased cancer susceptibility [Luciani et al, 2003;Tsilchorozidou et al, 2004]. Cancer was also associated with ring chromosomes 11 and 13 [Tommerup and Lothe, 1992].…”

Section: Discussionmentioning

confidence: 90%

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

Havlovičová

Novotna

Kočárek

et al. 2006

American J of Med Genetics Pt A

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We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17 and chromosome 17 monosomy. The extent of genetic material deleted from the ring chromosome was determined using a combination of classical cytogenetics, fluorescence in situ hybridization (FISH) and multiplex ligation‐dependent probe amplification (MLPA) to be 0.6–2.5 Mb on 17p, and up to about 10 Mb on 17q. Based on our observations and on a review of the literature we argue that in addition to a universal “ring syndrome” which is based on ring instability and is less specific for the chromosome involved, various ring chromosomes underlie their own characteristic phenotypes. We propose that the symptoms leading to the diagnosis of NF1 in our patient could be attributed to mosaic hemizygosity for the NF1 gene in some of her somatic cells. A similar mechanism or a direct involvement of respective disease genes in the aberration could possibly influence also the development of autism and other symptoms. We raise a question if the loss of one copy of chromosome 17 from a substantial fraction of somatic cells can have specific consequences also for future risks of the patient, for example, due to the mosaic hemizygosity for the BRCA1 and TP53 genes. © 2006 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 90%

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

Havlovičová

Novotna

Kočárek

et al. 2006

American J of Med Genetics Pt A

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“…1,3,6 Although one study 3 showed the severity of global developmental delay increased with the size of the deletion in 16 patients (plus 17 patients with r(22)), only 4/12 measures of developmental assessment showed some correlation with deletion size in a study of 56 patients. 6 If SHANK3 is responsible for most of the neurological abnormalities in these patients, this would imply that deletion of the region proximal to SHANK3 might have a mild phenotype that is largely masked by the terminal deletion of SHANK3.…”

Section: Introductionmentioning

confidence: 99%

“…In two studies representing 72 patients, the size of the deletion was determined at the molecular level to range from 130 kb to deletions larger than 9 Mb in size. 3,6 The smallest deletions were found to contain the gene SHANK3, which encodes a synapse structural protein and is located approximately 130 kb from the telomere. Among the 72 patients specifically tested for SHANK3, 61 were hemizyogous at this locus.…”

Section: Introductionmentioning

confidence: 99%

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

et al. 2008

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The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects. We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. Both these interstitial deletions are completely contained within the largest terminal deletion, but do not overlap with the nine smallest terminal deletions. These interstitial deletions indicate that haploinsufficiency for 22q13 genes other than SHANK3 can have major effects on cognitive and language development. However, the relatively mild speech problems and normal cognitive abilities of a parent who transmitted her identical interstitial deletion to her more severely affected son suggests that the phenotype associated with this region may be more variable than terminal deletions and therefore contribute to the relative lack of correlation between clinical severity and size of terminal deletions. The phenotypic similarity between the interstitial deletions and non-overlapping small terminal 22q13 deletions emphasizes the general nonspecificity of the clinical picture of the 22q13 deletion syndrome and the importance of molecular analysis for diagnosis.

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“…If SHANK3 is responsible for most of the neurological abnormalities in these patients, this would imply that deletion of the region proximal to SHANK3 might have a mild phenotype that could be masked by the terminal deletion of SHANK3. Almost all of the 22q13 deletions published have been described as terminal [15,30,16,12,14,20]. However, there are several cases identified in the literature that have been described as 22q13 interstitial deletion and that presented a phenotype similar to the 22q13 terminal deletion syndrome [27,24,8,29].…”

Section: Discussionmentioning

confidence: 78%

“…To the best of our knowledge this is the first case of brain cortical malformation described in a patient with 22q13 deletion syndrome. As the majority of the cases previously described the reported girl presented a terminal deletion of considerable extension involving several genes including SHANK3 [15,30,16,12,14,20]. Because none of the previously reported cases of haploinsufficiency of SHANK3 were associated with a cortical brain disorder is improbably that this gene is involved in this kind of structural abnormalities.…”

Section: Discussionmentioning

confidence: 88%

Unilateral Opercular Polymicrogyria in a Girl with 22q13 Deletion Syndrome

Papetti¹,

Ursitti²,

Pimpolari³

et al. 2017

IJPCC

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The 22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. Almost all of the 22q13 deletions published so far have been described as terminal. It is believed that the SHANK3 gene is the major candidate gene for the neurologic features of the syndrome.Neuroradiological findings in PMS include arachnoid cyst, delayed myelination, frontal lobe hypoplasia, hypogenesis of corpus callosum and ventriculomegaly.We describe a 3-year-old girl with severe developmental delay and right opercular polymicrogyria associated with 22q13.2 -22q13.33 deletion.

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Cited by 121 publications

References 51 publications

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Unilateral Opercular Polymicrogyria in a Girl with 22q13 Deletion Syndrome

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