Del(3) (p25.3) without phenotypic effect.

Knight, Louise A.; Yong, Ming Hui; Tan, Mengyu; Ng, Insarova

doi:10.1136/jmg.32.12.994

Cited by 57 publications

(58 citation statements)

References 3 publications

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“…In fact, a 3p25.3 terminal deletion with no apparent abnormalities has been demonstrated in a mother and her child. 24 Similarly, a characteristic phenotype associated with deletions at 7q36 was not found in a second trimester foetus with an inverted duplication of chromosome 7 in association with a deletion within 7q36. 10 However, the loss of the DEF1 gene in all cases of inverted 8p duplication/deficiencies supports the assumption that during the process of repair of an aberrant recombination, important genes are both duplicated and deleted.…”

Section: Discussionmentioning

confidence: 98%

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?

et al. 1998

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We describe the first inverted duplication of the p21.3p26 region of chromosome 3 in a child with phenotypic features of the trisomy 3p syndrome. This uncommon type of aberration was verified by multicolour fluorescence in situ hybridisation (FISH) using yeast artificial chromosome (YAC) clones from chromosome 3 (CEPH library). With a newly constructed YAC clone from the 3p26 region an unexpected subtelomeric deletion was diagnosed in the aberrant chromosome 3. Using the primed in situ labelling (PRINS) method, telomeres were found to be present on the recombinant chromosome 3. The repeated appearance of concomitant distal deletions in inverted duplications suggests that an overall mechanism exists for the origin of such duplications/ deficiencies.

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Section: Discussionmentioning

confidence: 98%

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?

et al. 1998

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“…It is therefore surprising that only a very small number of innocuous autosomal deletions have been reported (deletions of the X chromosome should be considered as a separate group as they can be tolerated in females through selective X-inactivation). These locate to chromosome regions 2p12.2 → p13 (Lambert and Collinson, 1991), 2q13 → q14.1 (Sumption et al, 2001), 3p25.3 (Knight et al, 1995), 5p14 (Hand et al, 2000;Overhauser et al, 1986), 6q22.3 → q24.2 (Kumar et al, 1999), 8p23.1 (Reddy, 1999), 8q24.13 → q24.22 (Batanian et al, 2001), 11p12 (Barber et al, 1991), 13q21 (Couturier et al, 1985) and 16q21 (Hand et al, 2000;Witt et al, 1988).…”

Section: Discussionmentioning

confidence: 99%

Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3→q21

Moore

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et al. 2002

Cytogenet Genome Res

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Cytogenetic deletions are almost always associated with phenotypic abnormality and are very rarely transmitted. We have located a hitherto undescribed, familial deletion involving the region 11q14.3→q21 in five individuals in a three-generation kindred. Four of the deletion carriers show no phenotypic abnormality; the other, who is the proband, was investigated for short stature and poor academic progress. In view of the apparent innocuous nature of this genetic imbalance, the deletion was investigated in detail to determine its size (3.6 Mb) and location with reference to molecular markers and genetic content. The deleted region is described by a contig of 37 BACS including the flanking regions, which we have assembled. Several possible contributory factors are considered, which might explain the lack of clinical significance of this large deletion. It is notable that there are few genes in this region and none have known functions. All most likely have copies elsewhere in the genome and a number of other hypothetical genes appear to be members of certain gene families, i.e. none is unique. Part of the region (1 Mb) is also duplicated at the pericentromeric region 11p11. Given the very low proportion of the genome occupied by single copy genes and their uneven distribution, regions such as this, which appear to be functionally haplosufficient, may be more common than hitherto recognised.

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“…[37][38][39] Remarkably, Knight et al 39 reported a phenotypically normal mother and child both with a terminal 3p25.3 deletion, which suggests that a deletion distal to 3p25.3 does not need to have an apparent deleterious effect.…”

Section: Pmentioning

confidence: 99%