A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.

Ockey, Charles H; Feldman, Guy; Macaulay, M. E.; Delaney, M. J.

doi:10.1136/adc.42.224.428

Cited by 62 publications

(30 citation statements)

References 15 publications

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“…The first report was presented by Ockey et al in 1967 2 , whereas in 1992 a large interstitial Cr4q del with breakpoints at q31.22 to q34.2 was described by Sarda and colleagues 3 . In order to establish a genotype-phenotype correlation, the severity of the phenotype is correlated with the size of the deletion.…”

Section: Introductionmentioning

confidence: 99%

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

Cascella

Muzio

2017

Rev. chil. pediatr.

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Introduction. Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions. The purpose of this report is to document a case of a child affected by interstitial Cr4q del, expressing pain insensitivity as clinical feature not previously described. We also offer a discussion on genetic disorders featuring pain insensitivity/indifference. Case report. A Caucasian girl aged 12 came to our observation for a developmental delay with multiple congenital abnormalities and moderate intellectual disability (IQ 47). A de novo interstitial Cr4 del between band q31.3 and q32.2 (Cr4 del q31.3 to q32.2) was found. The child also expresses no evidence of pain perception to injures which normally evoke pain. Consequently, she is affected by severe disability caused by painless injuries and self-injurious behaviours, such as excessive self-rubbing and scratching. The neurological examination manifested high pain threshold with preserved tactile sensitivity. Conclusions. This is the first report of pain insensitivity in a patient with a specific genetic deletion involving the interstitial region of the distal long arm of Cr4. Moreover, this report could serve as a useful model to better understand mechanisms of pain perception and its modulation.

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Section: Introductionmentioning

confidence: 99%

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

Cascella

Muzio

2017

Rev. chil. pediatr.

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“…Eugen-Matthias Strehle, consultant pediatrician at North Tyneside General Hospital and honorary consultant in neuromuscular genetics at the Institute of Human Genetics, Newcastle, United Kingdom, presented '4q-syndrome. ' The first patient was reported by Dr. Charles Ockey in 1967 [1]. Twelve years later, Dr. Phillip Townes first used the term 4q-syndrome, applying it to a terminal deletion syndrome with a breakpoint in band 4q31 [2].…”

Section: Proceedings Part 1: Review Of 4q-syndrome and Case Presentationmentioning

confidence: 99%

Proceedings of the First Study Day on 4q Deletion Syndrome in Coventry, United Kingdom

Middlemiss¹

2011

TOGENJ

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4q deletions are rare chromosome disorders (RCD), with an estimated incidence of 1:50,000-100,000 that is rising as a result of routine introduction of chromosomal microarray testing. The diagnosis of a 4q deletion, as of any RCD, confers a sense of exclusion, isolation and guilt on families with an affected child. Reliable information available to a lay audience is scant. To address these issues, Unique, the Rare Chromosome Disorder Support Group, hosted the first international meeting on 4q deletions. Families valued the opportunity to meet genetics and medical professionals with an interest in 4q deletions and to exchange information with each other. In this paper, we intend to summarize all the information presented in this study meeting.

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“…4 chromosome were reported on 23 cases by the several authors (Ockey et al 1967 ;Golbus et al 1973 ;Ferrier and Freund 1974 ;v. Kempen 1975 ;Back et al 1977 ;Serville and Broustet 1977;Frias et al 1978 ;Rethore et al 1979 ;Townes et al 1979 ;Davis et al 1981;Fryns et al 1981;Mitchell et al 1981;Yu et al 1981;Lech et al 1982 ;Lipson et al 1982;Stamberg et al 1982) .…”

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confidence: 95%

“…The first initial case of del (4q) was reported by Ockey et al (1967). Thereafter additional cases for the deletion of the long arm of no.…”

mentioning

confidence: 99%

“…On the interstitial deletion, it was reported on 5 cases : One case with the deleted segment of q12-->q21 (tech et al 1982), one case of q21--~q25 (Mitchell et al 1981), one case of q21--~q26 (Mitchell et al 1981), one case of q24-q32 (Serville and Broustet, 1977), and one case of q27-q31 (Mitchell et al 1981) . On the terminal deletion, it was reported on 19 cases : 15 cases with the deleted segment of q3--*gter or q31-gter (Ockey et al 1967 ;Golbus et al 1973;Ferrier et al 1974;v. Kempen 1975;Back et al 1977;Frias et al 1978;Townes et al 1979;Yu et al 1981;Davis et al 1981;Mitchell et al 1981;Lipson et al 1982; the present case), two cases of q32-~gter (Rethore et al 1979;Fryns et al 1981), and two cases of q33-~gter (Mitchell et al 1981;Stamberg et al 1982).…”

mentioning

confidence: 99%

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A case of a female infant with terminal deletion of the long arm of No. 4 chromosome.

Kadotani

Watanabe

Takeuchi

et al. 1986

Proceedings of the Japan Academy. Ser. B: Physical and Biologic

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A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.

Cited by 62 publications

References 15 publications

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

Proceedings of the First Study Day on 4q Deletion Syndrome in Coventry, United Kingdom

A case of a female infant with terminal deletion of the long arm of No. 4 chromosome.

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