Five new subjects with ring chromosome 22

Ishmael, HA; Cataldi, D; Ml, Begleiter; Pasztor, LM; Dasouki, MJ; Butler, M G

doi:10.1034/j.1399-0004.2003.00064.x

Cited by 28 publications

(28 citation statements)

References 26 publications

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“…К л и н и ч е с к и е н а б л ю д е н и я С подросткового возраста описаны расстройства на-строения [8,9].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…У пациентов с аномалиями внутренних органов выявлена значительная протяженность мутации: по-мимо локуса 22q13 она захватывает проксимально рас-положенные гены, отвечающие за органогенез плода (22q12, 22q11) [8].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…[8], проанализировавших в 2003 г. 53 случая, опубликован-ных к тому времени в медицинской литературе, и до-бавивших 5 собственных наблюдений, описав, таким образом, проявления СФМ у 58 пациентов (табл.…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…МРТ головного мозга обнаружива-ет аномалии не более чем у 10 % пациентов с СФМ: расширение боковых желудочков, атрофия большого мозга и мозжечка, особенно его червя, менингиомы и опухоли мозжечка [8].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

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PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

Бобылова¹,

Никитина²,

Мухин³

et al. 2016

Rus. ž. det. nevrol.

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“…К л и н и ч е с к и е н а б л ю д е н и я С подросткового возраста описаны расстройства на-строения [8,9].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

See 2 more Smart Citations

PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

Бобылова¹,

Никитина²,

Мухин³

et al. 2016

Rus. ž. det. nevrol.

View full text Add to dashboard Cite

“…havioral anomalies, microcephaly, hypotonia, and mild dysmorphic traits [Weleber et al, 1968;Ishmael et al, 2003]. Clinical features of r(22) overlap with those of 22q13 terminal deletion [Lam et al, 2006] and, in both syndromes, SHANK3 is suggested to be the most likely candidate gene for the neurobehavioral features [Luciani et al, 2003].…”

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confidence: 99%

Molecular and Phenotypic Characterization of Ring Chromosome 22 in Two Unrelated Patients

Hannachi¹,

Mougou²,

Benabdallah³

et al. 2013

Cytogenet Genome Res

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We report on the cytogenetic and molecular characterization of a constitutional de novo ring chromosome 22 (r(22)) in 2 unrelated patients with emphasis on different hypotheses proposed to explain the phenotypic variability characterizing this genomic disorder. In both patients, molecular investigations using FISH and array-CGH techniques revealed a 22q terminal deletion involving the 22q13.33 critical region. The size of the deletion was estimated to at least 1.35 Mb in the first proband and to only 300 kb in the second. They both exhibited the major features of r(22) syndrome, but the first patient was more profoundly affected. He had a more severe phenotype, further complicated by behavioral anomalies, autistic-like features with abnormal EEG pattern and brain MRI profile. Haploinsufficiency of the SHANK3 gene, lying in the minimal critical region, is nowadays considered as responsible for most neurobehavioral anomalies. Nevertheless, phenotypic severity and occurrence of additional features in the first patient suggest a potential involvement of one or more specific gene(s) located proximally to SHANK3 (as PLXNB2, PANX2, ALG12 or MLC1), acting either independently of it or by regulating or promoting its expression and thus disrupting its function when deleted.

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Deletion 22 q 13 Syndrome ( P helan‐ M c D ermid Syndrome)

Phelan

Stapleton

Rogers

2005

Management of Genetic Syndromes

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The deletion 22q13 syndrome results from loss of a segment of the distal long arm of chromosome 22. Simple deletions, rings, unbalanced translocations, and other less common structural chromosome abnormalities have been associated with this deletion syndrome. The major clinical features are neonatal hypotonia, global developmental delay, absent or severely delayed speech, and normal to accelerated growth. Facial features include dolichocephaly, full brow, flat midface, wide nasal bridge, bulbous nose, deep‐set eyes, ptosis, long eyelashes, puffy eyelids, full cheeks, and prominent ears. Other common features are large fleshy hands, dysplastic toenails, high tolerance to pain, and mouthing or chewing behaviors. Less common features are arachnoid cysts, lymphedema, and hearing loss. There are no apparent life‐threatening defects of the organ systems. Therapies to improve muscle tone, coordination, strength, cognitive skills, and communication skills are beneficial to many individuals. Haploinsufficiency for the gene SHANK3/PROSAP2 is the most likely cause for the neurological deficits associated with deletion 22q13. The eponym for deletion 22q13 is Phelan‐McDermid Syndrome

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Five new subjects with ring chromosome 22

Cited by 28 publications

References 26 publications

PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

Molecular and Phenotypic Characterization of Ring Chromosome 22 in Two Unrelated Patients

Deletion 22 q 13 Syndrome ( P helan‐ M c D ermid Syndrome)

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