Interstitial deletion of the short arm of chromosome 5 in a mother and three children.

Walker, J L; Blank, C. E.; Smith, Barbara A.

doi:10.1136/jmg.21.6.465

Cited by 26 publications

(19 citation statements)

References 5 publications

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“…Each also had involvement of adjacent bands 5p15.1 and 5p13. All four carriers of the deletion were mentally retarded and had other minor dysmorphic features (Walker et al, 1984), although loss of 5p14 is known not to cause any dysmorphism.…”

Section: Discussionmentioning

confidence: 98%

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

et al. 2000

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We describe two families in which an inherited interstitial deletion is present without apparent associated phenotypic abnormalities. The first deletion was discovered in a 19-year-old male with a previously diagnosed peroxisomal disorder. High-resolution chromosome analysis was interpreted as 46,XY,del(5)(p14.1p14.3). The patient's phenotypically normal mother had the same interstitial deletion. Chromosome 5p14 deletion has been reported in a three-generation family without phenotypic anomalies. We hypothesize that the affected son's phenotype may be coincidental or represent unmasking of an autosomal recessive peroxisomal disorder in the deleted region. The second interstitial deletion was detected by amniocentesis for advanced maternal age. High-resolution chromosome analysis was interpreted as 46,XX,del(16)(q13q22). The same deletion was found in the healthy mother and a normal brother. The pregnancy was carried to term and resulted in the birth of a normal girl. We report these cases as further evidence that rare, unbalanced deletion of specific chromosomal regions may result in no phenotypic effect. Consequences may result from expression of an autosomal recessive disorder on the homologous chromosome. Identification of such deletions is especially important for prenatal diagnosis and genetic counselling.

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Section: Discussionmentioning

confidence: 98%

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

et al. 2000

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“…2 ), all family members were unaffected. However, in other reported cases with familial inheritance of similar aberrations, there were affected individuals with varied manifestations and severity [Walker et al, 1984;Keppen et al, 1992;Johnson et al, 2000;Barber et al, 2011]. Additionally, there is a report of a healthy parent with a deletion in 5p14 who had an affected son with the same abnormality [Johnson et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

“…2 ). Walker et al [1984] described an interstitial deletion in 5p13p15.1 that was found in a mentally retarded woman and 3 of her 4 children. The mother and the 2 chromosomally abnormal children showed mild dysmorphic features and moderate mental retardation.…”

Section: Discussionmentioning

confidence: 99%

“…The region is indicated by the rectangle on the idiogram of chromosome 5 and above the idiogram, the approximate extent of the 3 mental retardation regions , and Mb) as proposed by Zhang et al [2005] are shown. The horizontal double-headed arrows indicate the approximate extent of several deletions: the dotted line of the benign deletions (patient 253161 from Decipher database and our present case) [further patients from Overhauser et al, 1986;Hand et al, 2000;patient 51 in Zhang et al, 2005 ]; the alternate dotted and dashed line of the affected child with a normal father [Johnson et al, 2000]; the solid line of the transmitted deletions in affected families or individuals (patients 251.341 and 252.509 from Decipher database) [Walker et al, 1984;Keppen et al, 1992;Barber et al, 2011].…”

Section: Discussionmentioning

confidence: 99%

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De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

Papoulidis

Vetro

Kefalas³

et al. 2013

Mol Syndromol

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We describe a case of a 34-year-old male presenting with oligospermia and an otherwise normal phenotype. Investigation with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 15.5 Mb in chromosome 5p13.3p14.3. We compared the phenotype of our patient with recently reported patients studied by aCGH, who show an overlapping deletion. We also analyzed the gene content of the deleted region in order to propose a possible involvement of specific genes in the clinical phenotype.

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“…Since CDCS is likely to be a contiguous gene syndrome, it would not be unexpected to identify patients with a subset of the clinical features. In fact, such individuals with a 5p~ karyo type with atypical phenotypes have been reported (Baccichetti, 1982;Walker et al, 1984;Overhauser et al, 1986;Baccichetti, 1988;Bengtsson et al, 1990;Gersh et al. 1995;Church et al, 1995).…”

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confidence: 99%

Development of diagnostic tools for the analysis of 5p deletions using interphase FISH

Gersh

Grady

Rojas

et al. 1997

Cytogenet Genome Res

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Cri-du-chat syndrome is associated with a deletion of the short arm of chromosome 5. Through the phenotypic and molecular analyses of individuals with a subset of the features associated with the syndrome, the genes involved in the syndrome have been mapped to two distinct critical regions. Deletion of a critical region in 5p15.2 results in the distinct facial features associated with the syndrome as well as the severe mental and developmental delay, while a deletion of 5pl 5.3 is associated only with the characteristic cat-like cry, the key diagnostic feature of the syndrome. Therefore, subtle differences in the extent of the 5p deletion can have a profound affect on the prognosis of the patient. In order to more easily differentiate between deletions that lead to the cri-du-chat syndrome phenotype and deletions that lead only to the isolated cat-like cry, we have constructed YAC contigs that span both critical regions. The YAC clones have been used to isolate cosmids mapping to each critical region and cosmids that lie just within the two critical region boundaries have been identified. We report here on the use of these cosmids as probes for fluorescent in situ hybridization experiments on interphase nuclei as a means of more accurately differentiating between small 5p deletions that coincide with a complete cri-du-chat syndrome phenotype and the severe mental and developmental delay that is associated with it and deletions that only delete the distal critical region that coincide with the isolated cat-like cry and a much improved prognosis.

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Interstitial deletion of the short arm of chromosome 5 in a mother and three children.

Cited by 26 publications

References 5 publications

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

Development of diagnostic tools for the analysis of 5p deletions using interphase FISH

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