Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

Mas, P. De

doi:10.1136/jmg.39.4.e17

Cited by 22 publications

(26 citation statements)

References 18 publications

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“…Dysmorphic features included dolichocephaly, epicanthal folds, ptosis, prominent or dysplastic ears, pointed chin, large and fleshy or broad hands, and 2-3 toe syndactyly. Luciani et al [2003] documented 33 affected patients ranging from 1 to 34 years of age, including one previously reported in the literature [De Mas et al, 2002]. Seventeen were females and 16 were males.…”

Section: Review Of Cases From the Literaturementioning

confidence: 98%

22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

Cusmano‐Ozog

Manning

Hoyme

2007

American J of Med Genetics Pt C

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The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic facies. The prevalence of this disorder is unknown, but it is likely under-diagnosed. Age at diagnosis has varied widely, from cases diagnosed prenatally to 46 years. Males and females are equally affected. The distal 22q deletion can be detected occasionally by routine or high resolution chromosome analysis; however, the majority of cases are detected by FISH analysis, associated with deletion of the ARSA (control) probe when performing a FISH analysis for the velocardiofacial syndrome (del 22q11.2). The 22q13.3 deletion syndrome can accompany a simple chromosome deletion, an unbalanced translocation, or a ring chromosome. Primary care physicians, in addition to numerous specialists, play an important role in caring for patients with this disorder. Although the dysmorphic features observed in this condition are nonspecific, it is an important consideration in the differential diagnosis of children with developmental delay, hypotonia, marked speech and language disability, autistic-like features, multiple minor anomalies, and normal growth and head circumference.

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Section: Review Of Cases From the Literaturementioning

confidence: 98%

22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

Cusmano‐Ozog

Manning

Hoyme

2007

American J of Med Genetics Pt C

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“…There were 17 patients with an r(22) chromosome (cases 1 to 17 ), one of whom has already been reported (case 2 14 ). Twelve patients had a simple terminal 22q13 deletion (cases 18 to 29).…”

Section: Subjectsmentioning

confidence: 99%

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

Luciani

2003

Journal of Medical Genetics

122

135

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“…Its common clinical features include overall developmental delay with severe speech disability, growth retardation with frequently associated microcephaly, hypotonia, and minor dysmorphic traits. Behavioral anomalies, autistic disorders and seizures or abnormal EEG have also been reported [Gibbons et al, 1999;De Mas et al, 2002;Lam et al, 2006;Koç et al, 2008;Wilson et al, 2008;Demirhan and Tunç, 2010]. The most frequently observed features of individuals with r(22) overlap with those of 22q13 deletion syndrome except for growth failure which is often replaced by a general tendency to overgrowth [Luciani et al, 2003;Jobanputra et al, 2009].…”

Section: Discussionmentioning

confidence: 97%

“…A comparison between our probands and a series of previously reported 22q13.3-deleted patients having deletions differing both in size and location supports this hypothesis, since all patients with total loss of SHANK3 ( fig. 3 , patients A-E [Gibbons et al, 1999;De Mas et al, 2002;Lam et al, 2006;Koç et al, 2008;Demirhar and Tunç, 2010], and ours) exhibited mental impairment and severe speech-language delay.…”

Section: Correlation Between Phenotype and Deletion Of The Minimal Crmentioning

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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Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

Cited by 22 publications

References 18 publications

22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

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

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

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