Chromosome 6q deletions: A report of two additional cases and a review of the literature

McLeod, David; Fowlow, S. B.; Robertson, A. S.; Samcoe, D.; Burgess, I.; Hoo, Joe J.

doi:10.1002/ajmg.1320350115

Cited by 61 publications

(61 citation statements)

References 19 publications

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“…The clinical features of our cases were compared with four other cases with similar interstitial deletions that had breakpoints determined cytogenetically to map between 6q24 and 6q27 and encompassing the SRO of our cases (Table 1). 4,6,14,16 This approach may help further delineate the phenotype associated with the deletion of 6q25.2 -q25.3. The studies with terminal deletions of 6q with breakpoints at or distal to 6q24.3, the most proximal breakpoint of deletions in our cases, and containing the SRO seen in our cases are also summarized.…”

Section: Discussionmentioning

confidence: 99%

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

et al. 2008

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Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2 -q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing.

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Section: Discussionmentioning

confidence: 99%

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

et al. 2008

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“…Deletion of the long arm of chromosome 6 Distal deletions including terminal deletions of the long arm of chromosome 6 are associated with seizures in ∼25% (five of 20) of cases (79)(80)(81)(82)(83). Interstitial deletions of the long arm of chromosome 6 were few, and seizures were mentioned in three cases (84)(85)(86).…”

Section: Chromosomementioning

confidence: 99%

“…Age at onset of seizures ranged from 4 months to 10 years. In five instances, generalized seizures were described (80)(81)(82)(83). The EEG was reported as showing hypsarrhythmia in one case (81).…”

Section: Chromosomementioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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“…12 14-17 A terminal deletion with the breakpoint in 6q26 was reported to be associated with growth and mental retardation and multiple congenital anomalies including an ASD, abnormal retinal pigmentation, abnormal cervical vertebrae, and short upper extremities. 18 A terminal deletion del(6)(q27→qter), occurring with a duplication dup(2)(pter→p25.3), was associated with mild dysmorphism, hypotonia, ataxia, mental retardation, and autistic features. 19 A cryptic deletion of 6q27 in association with a paracentric inversion inv(6)(q22.1q27) was reported in a mildly retarded child with microcephaly, epicanthic folds, hypertelorism, wide nasal tip, short philtrum, everted upper lip, and low set ears.…”

Section: Discussionmentioning

confidence: 99%

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27->qter

Kraus

2003

Journal of Medical Genetics

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Chromosome 6q deletions: A report of two additional cases and a review of the literature

Cited by 61 publications

References 19 publications

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27->qter

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