Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Doheny, Kimberly F.; McDermid, Heather E.; Harum, Karen H; Thomas, George H.; Raymond, Gerald V.

doi:10.1136/jmg.34.8.640

Cited by 61 publications

(63 citation statements)

References 13 publications

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“…Cryptic deletions of 22q13.3 resulting from malsegregation of maternal translocations were reported by Smith et al [1996] and Doheny et al [1997]. Doheny et al [1997] also reported a de novo cryptic deletion.…”

mentioning

confidence: 97%

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

Phelan

McDermid²

2011

Mol Syndromol

383

320

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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.

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mentioning

confidence: 97%

“…Doheny et al [1997] also reported a de novo cryptic deletion. Yong et al [1997] reported the first case of mosaicism for deletion 22q13.2 in a 5-year-old female with global developmental delay, failure to thrive, seizures, dysmorphic features, and abnormal skin pigmentation.…”

mentioning

confidence: 99%

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

Phelan

McDermid²

2011

Mol Syndromol

383

320

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“…There are currently insufficient published reports of the use of this technology in the evaluation of the child with DD/MR. At the time of [76][77][78][79] this writing, a few clinical laboratories are offering this type of testing.…”

Section: Submicroscopic Subtelomeric Rearrangementsmentioning

confidence: 99%

Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays

Moeschler¹,

Shevell²

2006

Pediatrics

236

184

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This clinical report describes the clinical genetic evaluation of the child with developmental delays or mental retardation. The purpose of this report is to describe the optimal clinical genetics diagnostic evaluation to assist pediatricians in providing a medical home for children with developmental delays or mental retardation and their families. The literature supports the benefit of expert clinical judgment by a consulting clinical geneticist in the diagnostic evaluation. However, it is recognized that local factors may preclude this particular option. No single approach to the diagnostic process is supported by the literature. This report addresses the diagnostic importance of clinical history, 3-generation family history, dysmorphologic examination, neurologic examination, chromosome analysis (≥650 bands), fragile X molecular genetic testing, fluorescence in situ hybridization studies for subtelomere chromosome rearrangements, molecular genetic testing for typical and atypical presentations of known syndromes, computed tomography and/or magnetic resonance brain imaging, and targeted studies for metabolic disorders.

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“…The breakpoint involving loss of short arm material is of no clinical consequence, whereas breakpoint on the long arm, which can vary in size, can affect the phenotypic expression dependent on the size of the deletion. Manifestations of 22q telomere deletions include developmental delay, normal or accelerated growth, hypotonia, delay or absence of speech, and minor facial anomalies [Doheny et al, 1997;Nesslinger et al, 1994;Schroder et al, 1998], which is similar to the phenotype reported for ring 22 [Hunter et al, 1977].…”

Section: Introductionmentioning

confidence: 76%

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s

et al. 2000

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A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based on microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis identified a ring 22, while fluorescence in situ hybridization (FISH) for the DiGeorge syndrome critical region identified a 22q deletion on the other homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally retarded range. The father's karyotype was normal whereas the mother had the ring 22 that was inherited by her son. This is the first case reported for abnormalities on both 22 homologues.

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Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Cited by 61 publications

References 13 publications

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

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

Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s

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