Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

Fukuhara, Koichi; Fukuhara, Kyoko; Mino, Masahiro; Kusunoki, Tomoichi; Misawa, Shinichi; Morita, Mayuko; Abe, Tatsuo

doi:10.1007/bf01890107

Cited by 4 publications

(1 citation statement)

References 25 publications

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“…Steele et al, Niazi et aL, 1978Fryns et al, 1979Fukuhara et al, 1979Matsuoka et aL, 1981de Torres et al, 1984Borovik et aL, 1987Tayel et aL, 1988 pericentric inversion or translocation, are clinically mild in comparison with those patients with full trisomy 18 syndrome. Several clinical signs, such as mental and growth retardation, auricular deformities and micrognathia, are seen commonly in both types of chromosome anomaly.…”

Section: Cytogenetic Studymentioning

confidence: 99%

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

et al. 1991

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SummaryA 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (pll.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (pl 1.2-pter) of chromosome t8. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.

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Section: Cytogenetic Studymentioning

confidence: 99%

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

et al. 1991

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Precise mapping of a de novo duplication 18(q21→q22) utilizing cytogenetic, biochemical, and molecular techniques

et al. 1993

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We describe the first de novo inverted duplication of 18q. Due to the difficulty of identifying de novo chromosome abnormalities based solely on cytologic studies, precise definition of the 18q duplication was attempted by integrating cytogenetic and clinical findings with biochemical and molecular dosage studies. The combined results demonstrated that the proposita had a duplication of 18q21-->q22 with a karyotype of 46,XX,-18, + inv dup(18) (pter-->q12.1::q22-->q21::q12.1-->qter). The duplication of this specific chromosome region does not result in the typical 18 phenotype, supporting the hypothesis that various loci on chromosome 18 may interact to produce the manifestations of this syndrome.

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Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization

Semerci

Bahçe

Atik

et al. 2004

Annales de Génétique

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Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

Cited by 4 publications

References 25 publications

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

Precise mapping of a de novo duplication 18(q21→q22) utilizing cytogenetic, biochemical, and molecular techniques

Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization

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