Short arm deletion of chromosome 12

Orye, E; Craen, Margarita

doi:10.1007/bf00284808

Cited by 18 publications

(19 citation statements)

References 3 publications

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“…The patient died at 7 months after cardiac surgery. Orye and Craen [1983] described a 9-year-old female with del@)(q2 1) with neither the clinical phenotype of TRPSE nor exostoses. In these four cases, the deletions were either much more extensive or involved a different part of 8q than any of the cases with the clinical and osseous findings of TRPSE.…”

Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

et al. 1984

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We report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome.

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Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

et al. 1984

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“…Larger 12p terminal deletions identified by conventional cytogenetic techniques have been described in 12 patients since 1975. [29][30][31][32] A recognisable '12p deletion syndrome' was once suggested but ruled out because of a lack of specificity. 31 From our patients and the review of the literature, we have further delineated the clinical phenotype of 12p13.3 microdeletions (Table 1).…”

Section: Discussionmentioning

confidence: 99%

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

et al. 2012

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Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of o5 Mb involving the 12p13.33 locus is one of the least commonly deleted subtelomeric regions. Only four patients have been reported with such a deletion diagnosed with fluorescence in situ hybridisation telomere analysis or array CGH. To further delineate this rare microdeletional syndrome, a French collaboration together with a search in the Decipher database allowed us to gather nine new patients with a 12p13.33 subtelomeric or interstitial rearrangement identified by array CGH. Speech delay was found in all patients, which could be defined as CAS when patients had been evaluated by a speech therapist (5/9 patients). Intellectual deficiency was found in 5/9 patients only, and often associated with psychiatric manifestations of various severity. Two such deletions were inherited from an apparently healthy parent, but reevaluation revealed abnormal speech production at least in childhood, suggesting variable expressivity. The ELKS/ERC1 gene, which encodes for a synaptic factor, is found in the smallest region of overlap. These results reinforce the hypothesis that deletions of the 12p13.33 locus may be responsible for variable phenotypes including CAS associated with neurobehavioural troubles and that the presence of CAS justifies a genetic work-up.

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“…Previous reports suggest the possibility of a del( 12p) syndrome [Mayeda et al, 1974;Orye and Craen, 1975;Magnelli and Therman, 1975;Tenconi et al, 1975;Malpeuch et al, 1975;Magenesis et al, 19811. Two additional cases of suspected del(l2p) have been reported but were not included here.…”

Section: Discussionmentioning

confidence: 99%

“…Two patients had cardiac defects, which were not similar [Tenconi et al, 1975;Mayeda et al, 19741. Nonspecific eye abnormalities, including strabismus and optic atrophy, have been noted in three patients [Mayeda et al, 1974;Orye and Craen, 1975;Magenis et al, 19811. Another patient was reported to have blue sclerae; he also had multiple fractures and osteoporosis similar to patients with osteogenesis imperfacta [Orye and Craen, 19751. Our patient was neither small for gestational age nor did she have microcephaly.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic variation in the del(12p) syndrome

1985

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Previous reports suggested the existence of a del(12p) syndrome. Phenotypic abnormalities associated with del(12p) appear to be mental retardation, microcephaly, and micrognathia. The patient with del(12p) reported here was normocephalic and large for gestational age. She probably had sclerocornea, a finding not previously associated with del(12p). Phenotypic variation in del(12p) syndrome is probably caused by differences in the size of the deleted segment and/or the presence or absence of mutant genes on the homologous 12p segment.

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Short arm deletion of chromosome 12

Cited by 18 publications

References 3 publications

The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Phenotypic variation in the del(12p) syndrome

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