A case with the interstitial deletion of the long arm of no. 5 chromosome.

Kadotani, Tetsuji; Kanata, Suzue; Kubo, Setsuji; Kodama, Hidetoshi; Watanabe, Yoko

doi:10.2183/pjab.60.406

Cited by 6 publications

(5 citation statements)

References 7 publications

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“…Here, we describe a case of a de novo constitutional interstitial deletion of the long arm of chromosome 5 diagnosed prenatally. The clinical features of this fetus are compared with other cases with identical intersti- Cross et al [1992] (2 cases) (q22q23.2) a,b de Michelena et al [1990] (q15q31) g t(1;11) Dudin et al [1984] (q11q13) Felding and Kristoffersson [1980] (q15q31) g Fukuda et al [1984] (q15q22) Harprecht-Beato et al [1983] (q15q31) or (q13q15) g Herrera et al [1986] (q13q15) or (q15q22) a,c Hockey et al [1989] (2 cases) (q13q15) or (q15q22) a,c Hodgson et al [1992] (2 cases) (q21.3q23.3) a,b (q15q22.3 or q23.1) a,b Kadotani et al [1979] f ‫ס‬ Katano et al [1980] f (q15q31) f,g Kadotani et al [1984] (q22q31) Kobayashi et al [1991] Oguro et al [1989] (q13q15) or (q15q22) Ohdo et al [1982] (q13q22) Olschwang et al [1993] (3 cases) d (q13.2q22) a,e (2 cases) (q14q23.1) a,e Palmer et al [1978] (q21q23) Pescia et al [1978] (q15q23) or (q14q22) Rivera et al [1985] (q15q22) t(4;5) Rivera et al [1987] (q23.3q31.1) Rivera et al [1990] (q22q31.1) Rodewald et al [1982] (q13q22) Silengo et al [1981] Localization of the breakpoints determined by FISH and/or molecular studies. c In those two reports, the deletion includes q15q22 and not q13q15 since both patients have FAP.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Courtens,

Tjalma,

Messiaen

et al. 1998

Am. J. Med. Genet.

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed.

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Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Courtens,

Tjalma,

Messiaen

et al. 1998

Am. J. Med. Genet.

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“…PDA and hypertrophic cardiomyopathy, mitral regurgitation with left atrial enlargement, respectively. Indeed, cardiac defects are more characteristic findings in cases with distal 5q deletions (the q33 to q35 region) (Aftimos et al, 2010); genital abnormalities have been found in 3 male cases, including this case, and they had all hypoplastic genitalia (Kadotani et al, 1984;Rivera et al, 1987).…”

Section: Discussionmentioning

confidence: 68%

“…The common breakpoints of the interstitial 5q deletions were q15q31, q15q22 (or q15q21), q22q31, q23q31 and q22q23 (Table 1) (Courtens et al, 1998;Garcia-Miñaur et al, 2005;Harréus and Issing, 2002;Kadotani et al, 1984;Kobayashi et al, 1991;Lindgren et al, 1992;Rivera et al, 1987Rivera et al, , 1990Tzschach et al, 2006). Lindgren et al (1992) Fig.…”

Section: Discussionmentioning

confidence: 99%

Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

Lee

Chae

Park

et al. 2012

Gene

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“…Patients with larger interstitial deletions of 5q have been reviewed [Courtens et al, 1998]. We compared the phenotype of the present patient to six published cases with a cytogenetically similar size and localization of the deletion [Kadotani et al, 1984; Rivera et al, 1987; Rivera et al, 1990; Kobayashi et al, 1991; Lindgren et al, 1992; Harreus and Issing, 2002]. The clinical features of these patients, including the patient reported here, with deletions spanning the chromosomal region 5q22–5q31 are listed in Table II.…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Tzschach

Krause-Plonka

Menzel

et al. 2006

American J of Med Genetics Pt A

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We report a 2(3/12)-year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six other patients with deletions of chromosomal bands 5q22-5q31 allowed further delineation of a constitutional del5q22q31 syndrome. The main features of this syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, cleft or high arched palate, low-set and dysplastic ears, flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and micro- and/or retrognathia.

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A case with the interstitial deletion of the long arm of no. 5 chromosome.

Cited by 6 publications

References 7 publications

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

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