Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6

Lee, Ji Yun; Cho, Youl Hee; Hallford, Gene

doi:10.1111/j.1469-1809.2011.00675.x

Cited by 19 publications

(27 citation statements)

References 71 publications

(88 reference statements)

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“…Pure terminal deletions of the long arm of chromosome 6 are rare chromosomal abnormalities and present with variable clinical features. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability, developmental delay, hypotonia, seizure, and multiple malformations (Eash et al, ; Bertini et al, ; Rooms et al, ; Striano et al, ; Lee et al, ). Similar clinical features have been described in unrelated patients with variable deletion sizes including the case reported here, suggesting that genes responsible for the phenotypic features of 6q deletions reside in the distal 6q27 region.…”

Section: Discussionmentioning

confidence: 99%

“…Terminal deletions of the long arm of chromosome 6 are rare chromosomal abnormalities. The common postnatal phenotypes associated to 6q subtelomeric deletion include developmental delay, congenital hydrocephalus, seizures, hypotonia, microcephaly, and hypoplasia of the corpus callosum (Anderlid et al, ; Eash et al, ; Lee et al, ). Most of the reported cases are sporadic although a few families with multiple affected family members have been described (Le Caignec et al, ; Adeyinka et al, ; Rooms et al, ; Auber et al, ; Wadt et al, ; Conti et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother

Thakur

Bronshtein

Hankerd

et al. 2018

American J of Med Genetics Pt A

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Terminal deletions of the chromosome 6q27 region are rare genomic abnormalities, linked to specific brain malformations and other neurological phenotypes. Reported cases have variable sized genomic deletions that harbor several genes including the DLL1 and TBP. We report on an inherited 0.38 Mb terminal deletion of chromosome 6q27 in a 22-week fetus with isolated bilateral ventriculomegaly and her affected mother using microarray-based comparative genomic hybridization and fluorescent in situ hybridization (FISH). The deleted region harbors at least seven genes including DLL1 and TBP. The affected mother had a history of hydrocephalus, developmental delay, and seizures commonly associated with DLL1 and TBP 6q27 deletions. This deletion is one of the smallest reported isolated 6q27 terminal deletions. Our data provides additional evidence that haploinsufficiency of the DLL1 and TBP genes may be sufficient to cause the ventriculomegaly, seizures, and developmental delays associated with terminal 6q27 deletions, indicating a plausible role in the abnormal development of the central nervous system.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother

Thakur

Bronshtein

Hankerd

et al. 2018

American J of Med Genetics Pt A

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“…In the present study, the proband exhibited features that are known to be associated with the terminal 6q deletion phenotype. This fetus presented bilateral hydrocephalus/ventriculomegaly and a lumbar hemivertebrae but lacked the typical phenotypic features of subtelomeric 6q deletion, such as developmental delay, corpus callosum anomalies, microcephaly, cleft palate and hyperactivity [ 2 , 3 , 5 ], which was considered unusual for such a large deletion, spanning 10.04 Mb. Until now, very few cases of prenatal ventriculomegaly due to submicroscopic terminal 6q deletions have been reported, and in those cases, the extent of the deletion with respect to non syndromic ventriculomegaly was less than 5 Mb [ 5 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…Isolated 6q subtelomeric deletions are relatively rare, and few correlative studies have been reported [ 1 – 4 ]. The most common clinical features include mental retardation, developmental delay, dysmorphic features, hypotonia, microcephaly, facial dysmorphism, seizures, cardiac defects and brain anomalies, such as abnormal corpus callosum and hydrocephalus [ 1 , 3 , 5 ]. Patients with pure 6q terminal deletions usually present multiple anomalies and seldom present less than three malformations.…”

Section: Introductionmentioning

confidence: 99%

Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

Choy

Xie

et al. 2015

Balkan Journal of Medical Genetics

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This study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis on a fetus diagnosed with congenital hydrocephalus and hemivertebrae. The deletion, spanning 10.06 Mb from 6q25.3 to 6qter, was detected in this fetus. The results of aCGH, karyotype and fluorescent in situ hybridization (FISH) analyses in the healthy parents were normal, which confirmed that the proband’s copy-number variant (CNV) was de novo. This deleted region encompassed 97 genes, including 28 OMIM genes. We discussed four genes (TBP, PSMB1, QKI and Pacrg) that may be responsible for hydrocephalus while the T gene may have a role in hemivertebra. We speculate that five genes in the 6q terminal deletion region were potentially associated with hemivertebrae and hydrocephalus in the proband.

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“…Moreover, the fragile FRA6E site located in 6q26 extends over 3.6 Mb and contains eight genes: IGF2R , SLC22A1 , 2 and 3 , PLG , LPA , MAP3K4 and PARK2 [Denison et al, ; Palumbo et al, ]. Bertini et al [] and Lee et al [] have suggested that a breakage in FRA6E may lie at the origin of 6q deletions. Thus, this fragile site could play the role of acceptor‐site for the insertion of dup 2.…”

Section: Discussionmentioning

confidence: 99%

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction

Landais

Leroy

Kleinfinger³

et al. 2015

American J of Med Genetics Pt A

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Familial transmission of chromosome 6 duplications is rare. We report on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated with obesity. Obesity has previously been correlated to chromosome 6 q-arm deletion but has not yet been assessed in duplications. The aim of this study was to characterize the structure of these intrachromosomal insertional translocations by classic cytogenetic banding, array-CGH, FISH, M-banding and genotyping using microsatellites and SNP array analysis, in a mother and four offspring. The duplicated 6q segments, 9.75 Mb (dup 1) and 7.05 Mb (dup 2) in size in the mother, were inserted distally into two distinct chromosome 6q regions. They were transmitted to four offspring. A son and a daughter inherited the two unbalanced insertions and displayed, like the mother, an abnormal phenotype with facial dysmorphism, intellectual disability, and morbid obesity. Curiously, two daughters with a normal phenotype inherited only the smaller segment, 6q16.3q21. The abnormal phenotype was associated with the larger proximal 6q15q16.3 duplication. We hypothesize a mechanism for this exceptional phenomenon of recurrent reduction and transmission of the duplication during meiosis in a family. We expect the interpretation of our findings to be useful for genetic counseling and for understanding the mechanisms underlying these large segmental 6q duplications and their evolution.

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Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6

Cited by 19 publications

References 71 publications

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother

Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction

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