Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype

Batanian, JR; Morris, Katrina M.; Ma, Enríquez-Guerra; Huang, Ying; McComb, J

doi:10.1034/j.1399-0004.2001.600509.x

Cited by 13 publications

(7 citation statements)

References 10 publications

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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

Ngo

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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Section: Discussionmentioning

confidence: 99%

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

Moore

Ngo

et al. 2002

Cytogenet Genome Res

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“…6 The phenotypically normal mother had the same deletion and a history of miscarriage and fetal loss. The pregnancy with the deletion resulted in a 26 week phenotypically normal stillbirth with significant placental pathology.…”

Section: Del(8)(p231/2-pter)mentioning

confidence: 99%

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

Barber

2005

Journal of Medical Genetics

151

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“…Most of the Barber 2000Overhauser et al 1986Hand et al 2000Mascarello et al 1991Reddy 1999Batanian et al 2001Pelly et al 1992Davis et al 1999Barber et al 1991Li et al 2002Couturier et al 1985Hand et al 2000Witt et al 1988Rigola et al 2001 Duplication 1p21-p31 1q11-q22* 1q42.11-q42.12* 3q25-q25* 3q28-q29 4q31.3-q33* 5q15-q21* 6q24. Zaslav et al 1993Chan et al 2002Bortotto et al 1990Fryburg et al 1994Millard et al 1998Maltby et al 1999Li et al 1998Barber 2000Chan et al 2003Engelen et al 2000Harada et al 2002Stumm et al 2002Di Giacomo et al 2004Saxe et al 2003Robin et al 1997Cook et al 1997Wolff et al 1991 recorded cases are presented in Table 1 (after Barber).…”

Section: Unbalanced Euchromatic Abnormalities (Ubcas) Deletionsmentioning

confidence: 99%

“…Microscopic deletion of 8q24.13-q24.22 was revealed in an unaffected mother and her fetus after a precise cytogenetic analysis, i.e. FISH with specific probes (Batanian et al 2001). A rare interstitial deletion of 11q14.3-q21 was identified in 5 individuals representing 3 generations of kindred.…”

Section: Unbalanced Euchromatic Abnormalities (Ubcas) Deletionsmentioning

confidence: 99%

Chromosome abnormalities without phenotypic consequences

2007

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Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Structural rearrangements of heterochromatic material, satellite polymorphism, or fragile sites, are well-known examples of common chromosome variation. However, the absence of clinical effects has also been reported in some cases of chromosome abnormalities concerning euchromatin. Such euchromatic anomalies were divided into 2 categories: unbalanced chromosome abnormalities (UBCAs), such as deletions or duplications, and euchromatic variants (EVs). Recently so-called molecular karyotyping, especially whole-genome screening by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals.

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Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype

Cited by 13 publications

References 10 publications

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

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

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

Chromosome abnormalities without phenotypic consequences

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