Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Romain, D R; Goldsmith, Jay P.; Cairney, H; Columbano-Green, L M; Smythe, R H; Parfitt, R G

doi:10.1136/jmg.27.9.588

Cited by 44 publications

(43 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The phenotype of one 14 closely matches with that of the terminal 22q13 deletion syndrome with developmental delay, delay of expressive speech, hypotonia, overgrowth, ptosis, full cheeks, as well as several other minor dysmorphisms observed with the 22q13 deletion syndrome. As this case was never characterized molecularly, it is possible that this patient has a terminal rather than interstitial deletion of 22q13.…”

Section: Discussionmentioning

confidence: 54%

“…A cell line (EB33) from the patient described in Fujita et al 15 was used to compare the interstitial deletion in this patient to the interstitial deletions present in our patients (material was not available for the patient described in Romain et al 14 ). The FISH probes used by have not yet been mapped on the published genomic sequence available through NCBI.…”

Section: Molecular Analysis: Definition Of the Deletionmentioning

confidence: 99%

See 1 more Smart Citation

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

et al. 2008

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 54%

Section: Molecular Analysis: Definition Of the Deletionmentioning

confidence: 99%

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

et al. 2008

View full text Add to dashboard Cite

show abstract

“…To our knowledge, however, deletion of 22q13 band has been reported in only 18 patients [Herman et al, 1988;Romain et al, 1990;Zwaigenbaum et al, 1990;Narahara et al, 1992;Phelan et al, 1992;Nesslinger et al, 1994;Dohney et al, 1997;Wong et al, 1997;Schröder et al, 1998]. All of them were a terminal deletion involving 22q13, but only one had interstitial deletion of this segment [Romain et al, 1990].…”

Section: Introductionmentioning

confidence: 93%

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

et al. 2000

View full text Add to dashboard Cite

We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.

show abstract

“…Intellectual impairment, hypotonia, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features emerged as common characteristics of individuals with deletion of 22q13.3 [Watt et al, 1985;Kirshenbaum et al, 1988;Romain et al, 1990;Zwaigenbaum et al, 1990;Narahara et al, 1992]. Nesslinger et al [1994] first suggested that this was the recognizable phenotype of deletion 22q13.3, and they narrowed the critical region of overlap from a proximal breakpoint below D22S97 to a region distal to ARSA , a distance of less than 25.5 cM.…”

mentioning

confidence: 99%

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Phelan

McDermid²

2011

Mol Syndromol

387

320

View full text Add to dashboard Cite

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors.

show abstract

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Abstract: An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter-*ql3

Cited by 44 publications

References 5 publications

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

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

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Contact Info

Product

Resources

About