Report of the committee on the genetic constitution of chromosome 4

Murray, J.C.; Ommen, G.J.B. van; Daniels, R.

doi:10.1159/000133164

Cited by 9 publications

(1 citation statement)

References 45 publications

(52 reference statements)

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“…show any apparent cytogenetic abnormalities in chromosome 4. However, submicroscopic deletions can be detected by molecular analysis using highly informative markers spanning the 4p16.3 region [Murray et al, 1991;Anvret et al, 1991;Gandelman et al, 19921. We report on molecular studies in 7 patients with clinical manifestations of WHS, probing genomic DNA from the patients and their parents with markers mapping in the most distal band 4~16.3.…”

Section: Introductionmentioning

confidence: 99%

Parental origin of chromosome 4p deletion in Wolf‐Hirschhorn syndrome

Dallapiccola¹,

Mandich

Bellone

et al. 1993

Am. J. Med. Genet.

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We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.

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Section: Introductionmentioning

confidence: 99%

Parental origin of chromosome 4p deletion in Wolf‐Hirschhorn syndrome

Dallapiccola¹,

Mandich

Bellone

et al. 1993

Am. J. Med. Genet.

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FISH detection of Wolf‐Hirschhorn syndorem: Exclusion of D4F26 as critical site

Johnson

Altherr

Blake³

et al. 1994

Am. J. Med. Genet.

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Wolf-Hirschhorn syndrome (WHS) is due to a deletion in the terminal band of 4p16.3. Among loci that have been involved in deletions are D4S98, D4S95, D4S125, D4F26, as shown by PCR typing, Southern blot hybridization, and/or fluorescent in situ hybridization (FISH). Currently, FISH detection of WHS is predicted upon the deletion of the D4F26 locus with failure to hybridize to pC847.351, a commercially available cosmid probe. A WHS patient is shown to have an interstitial deletion, by hemizygosity at D4S98 and D4S95 but not at D4F26. This suggests that the tip of 4p, specifically D4F26, is not a critical deletion site for WHS.

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Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

et al. 1995

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Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14-16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome.

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Report of the committee on the genetic constitution of chromosome 4

Cited by 9 publications

References 45 publications

Parental origin of chromosome 4p deletion in Wolf‐Hirschhorn syndrome

Parental origin of chromosome 4p deletion in Wolf‐Hirschhorn syndrome

FISH detection of Wolf‐Hirschhorn syndorem: Exclusion of D4F26 as critical site

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

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