<i>De novo</i> direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1)

Franz, H. B. G.; Schliephacke, M.; Niemann, G.; Mielke, G.; Backsch, Claudia

doi:10.1111/j.1399-0004.1996.tb02401.x

Cited by 14 publications

(11 citation statements)

References 9 publications

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“…Some cases, however, result from a partial de novo 7p direct duplication, that appears to be even rare than the familial cases. The described phenotypes in the majority of 7p duplication patients are likely influenced by associated partial monosomy of the second translocation chromosome [Franz et al, 1996; Reish et al, 1996]. To exclude the effects of these deletions, it would be helpful to find duplications without the involvement of other chromosomes, as in our patient.…”

Section: Discussionmentioning

confidence: 87%

A report of pure 7p duplication syndrome and review of the literature

Papadopoulou

Sifakis

Sarri

et al. 2006

American J of Med Genetics Pt A

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We report on a case of a 9-month-old female infant with a direct duplication of the 7p13-p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional G-banding detected a partial 7p duplication, which was further demonstrated to be entirely of chromosome 7 origin by using a whole chromosome paint for chromosome 7, and derived from 7p13-p22.1 by MCB. The infant presented with characteristic dysmorphic features, psychomotor retardation, and generalized hypotonia. The phenotypic manifestations of partial 7p trisomy with or without other chromosome involvement are briefly reviewed. Our observations in combination with other cases confirm that 7p trisomy due to dir dup(7p) can be regarded as a defined chromosome syndrome.

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Section: Discussionmentioning

confidence: 87%

A report of pure 7p duplication syndrome and review of the literature

Papadopoulou

Sifakis

Sarri

et al. 2006

American J of Med Genetics Pt A

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“…Previously reported cytogenetic data on cases of 7p duplication suggested that 7p15>pter may be a critical region for craniofacial development. Other authors suggested that the critical segment responsible for the characteristic craniofacial dysmorphism observed in the 7p duplication maps to a region around 7p21 [Franz et al, 1996; Cai et al, 1999]. Common findings in both groups of patients include intellectual disability, hypotonia, craniofacial dysmorphism (specifically, large anterior fontanel, microcephaly, ocular hypertelorism, high broad forehead, low‐set ears), abnormal palmar creases and skeletal abnormalities (hyperextensible joints, 5th finger clinodactyly, broad thumbs, spinal misalignment).…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

Chui

Weisfeld-Adams

Tepperberg

et al. 2011

American J of Med Genetics Pt A

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A 28-month-old Peruvian male presented with speech delay and unusual facial features including prominent forehead, anteverted nares, ocular hypertelorism, and low-set and posteriorly rotated ears with a unilateral preauricular pit. The patient had poor speech with no other developmental delays. Height and weight were normal, although closure of the anterior fontanel and bone age were delayed. Head circumference approximated the 95th centile for age. Following normal routine chromosome analysis and subtelomeric FISH, whole genome microarray revealed a novel interstitial duplication at 7p22.1, approximately 1.7 Mb in size, and containing 13 OMIM annotated genes. FISH studies on the propositus and his parents confirmed that the duplication had occurred de novo. This finding represents the smallest interstitial 7p duplication reported to date, and does not include genes previously implicated as candidates for a 7p duplication syndrome. Common phenotypic features of 7p duplication include distinctive facies with hypertelorism,large anterior fontanel, and intellectual disability. Based on the findings in our patient, and those in previously reported cases of 7p duplication, we propose that genes within this duplicated interval may have a role in skeletal maturation,craniofacial development, and speech acquisition.

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“…2,3 The critical region for physical and mental abnormalities is 7p15-pter; 2 for craniofacial dysmorphism, it is 7p21. 2,3,9 Both these patient groups, viz. those with physical and mental abnormalities, have many specific features in common.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4][5][6][7][8][9][10][11][12][13] Common features include craniofacial anomalies, a large fontanelle, dysmorphism and psychomotor delay, with hypotonia being the most common complication observed. [1][2][3][4][5][6][7][8]10,11,13 In their review of the literature, Cai et al found that 50% of 7p duplications were the result of balanced reciprocal translocation carriers.…”

Section: Discussionmentioning

confidence: 99%