A case of slight anemia with the long arm interstitial deletion of No. 5 chromosome (46, XY, 5q-).

Kadotani, Tetsuji; Katano, Takashi; Murakami, Marohito; Watanabe, Yoko

doi:10.2183/pjab.55.300

Cited by 6 publications

(5 citation statements)

References 7 publications

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“…However, because of the association of familial polyposis coli (FPC) with soft-tissue tumors, we felt that the patient had Gardner syndrome. Few cases of an interstitial deletion of 5q have been described [Felding and Kristoffersson, 1980;Kadotani et al, 1979;Kucerova and Polivkova, 1978;Pescia et al, 1978;Silengo et al, 1981;Stoll et al, 19801. In none of the described cases were the exact breakpoints on the 5q determined with certainty; the breakpoints appeared to vary from q13 to q31.…”

Section: Discussionmentioning

confidence: 99%

Gardner syndrome in a man with an interstitial deletion of 5q

Herrera¹,

Kakati²,

Gibas³

et al. 1986

Am. J. Med. Genet.

418

144

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Chromosome analysis of blood cells from a 42-year-old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q.

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Section: Discussionmentioning

confidence: 99%

Gardner syndrome in a man with an interstitial deletion of 5q

Herrera¹,

Kakati²,

Gibas³

et al. 1986

Am. J. Med. Genet.

418

144

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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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“…FAP is an inherited autosomal dominant condition leading to multiple intestinal polyps and predisposition to colon cancer. Although the first reported 5q interstitial deletion was in 1979 [Kadotani et al, 1979], the APC locus was discovered later by Kinzler et al [1991], who mapped it to the 5q22.2 band. Because of the timing of this discovery, all the clinical cases of 5q deletions up to that moment did not examine the manifestation of FAP in the patient, and therefore do not contribute any information about the link between 5q22 deletions and FAP.…”

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confidence: 99%

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

et al. 2018

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Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for the TSSK1B (testis-specific serine/threonine kinase 1) gene in the patient's reproductive capacity. Semen analysis confirmed that the patient's reproductive capability was impaired, and that he suffered from asthenoteratozoospermia. Analysis of the azoospermia factor region on the Y chromosome revealed no microdeletions. Further sequencing tests could not find an alternative explanation for the patient's infertility. This case demonstrates a possible role of TSSK1B in male reproduction.

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A case of slight anemia with the long arm interstitial deletion of No. 5 chromosome (46, XY, 5q-).

Cited by 6 publications

References 7 publications

Gardner syndrome in a man with an interstitial deletion of 5q

Gardner syndrome in a man with an interstitial deletion of 5q

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

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

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