Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.

Jalbert, P; Jalbert, H; Sèle, B; Mouriquand, C; Malka, Jonathan; Boucharlat, J; Pison, H

doi:10.1136/jmg.12.4.418

Cited by 43 publications

(28 citation statements)

References 6 publications

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“…The manifestations in common are low performance or mild mental retardation, a round face with hypertelorism or telecanthus, but otherwise few physical anomalies. Severe mental retardation, musculoskeletal abnormalities, heart defects, and more marked facial abnormalities may be found when larger segments, including 5q14→q22, are involved [Jalbert et al, 1975;Rojas-Martinez et al, 1990;BreslauSiderius et al, 1993]. Rodewald et al [1980] defined three different phenotypes corresponding to partial trisomy 5q, depending on the specific segment involved.…”

Section: Discussionmentioning

confidence: 98%

Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

et al. 1997

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We report on a patient with azoospermia, mild mental retardation, and minor physical anomalies. Chromosome analysis demonstrated the presence of additional material on the long arm of one chromosome 13. Forward chromosome painting using chromosome-specific libraries showed an insertion of material from chromosome 5. Further characterization with flow sorting of the aberrant chromosome and amplification by DOP-PCR followed by reverse chromosome painting showed specific trisomy of 5q12-->q13.3.

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Section: Discussionmentioning

confidence: 98%

Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

et al. 1997

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“…A number of cases of ring 14 chromosome have also been reported [Amarose et al, 1980;Fryns et al, 1982;Gilgenkrantz et al, 1971;Jalbert et al, 1977;McBride and Oppenheimer, 1980;Schmidt et al, 1981;Sparkes et al, 1977;Vekemens et al, 19791. Regularly observed manifestations of ring 14 patients are microcephaly, moderate to severe psychomotor and growth retardation, dolichocephaly, high forehead, downward-slanting palpebral fissures, epicanthic folds, short neck, seizures, and neurological abnormalities including tremor, athetosis, hypotonia, and hypertonia.…”

Section: Introductionmentioning

confidence: 87%

Ring chromosome 14 and immunoglobulin locus

et al. 1984

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A 2.5-yr-old girl was evaluated for seizurelike episodes and psychomotor and growth retardation. Cytogenetic study showed a ring 14 chromosome in most cells, with some cells having monosomy 14. Rarely, a cell showed a double ring chromosome 14. Both parents had normal chromosomes. Because serum immunoglobulins have been mapped to the distal portion of 14q, we attempted to correlate Ig levels with the deletion involved in the formation of this ring. No decrease in IgG, IgM, IgA, IgE, and IgD serum levels was observed. The normal serum Ig levels found in the proposita are compatible with the suggestion that the Ig loci are not located on the terminal portion of 14q but more proximally in band 14q32. However, because Gm and Am allotyping was not available mapping was not conclusive.

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“…Most cases were the result of an inherited unbalanced translocation, and therefore do not have pure partial trisomy for 5q [Ferguson-Smith et al, 1973;Jalbert et al, 1975;Osztovics and Kiss, 1975;Watanabe et al, 1977;Bartsch-Sandhoff and Liersch, 1977;Zabel et al, 1978;Curry et al, 1979;Jones et al, 1979;Rodewald et al, 1980]. There were three cases of apparently pure duplications of 5q, whose breakpoints had been determined cytogenetically [Kessel and Pfeiffer, 1979;Gilgenkrantz et al, 1981;Martin et al, 1985].…”

Section: Introductionmentioning

confidence: 97%

Duplication within chromosome 5q characterized by fluorescence in situ hybridization

Mowat

Jauch²,

Robson

et al. 1999

Am. J. Med. Genet.

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We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fluorescent signals on one of chromosomes 5, whereas FISH with three YAC probes (TYAC12 at 5q35, HTY3182 at 5q34, and TYAC139 at 5q31) did not give duplicated signals. These findings indicate a duplication of 5q22 band in one chromosome 5. The boy we describe here is the first case of a pure partial duplication of 5q to be proven by FISH techniques. A review of previously reported cases of putative partial 5q duplication showed no consistent phenotype.

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Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.

Cited by 43 publications

References 6 publications

Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

Ring chromosome 14 and immunoglobulin locus

Duplication within chromosome 5q characterized by fluorescence in situ hybridization

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