De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment

Rivera, Horacio; Rolón, A; Sánchez‐Corona, José; Cantú, J. M.

doi:10.1111/j.1399-0004.1985.tb00193.x

Cited by 10 publications

(2 citation statements)

References 12 publications

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“…and brachycephaly is one of the clinical features of a "5q monosomy syndrome" (Ohdo et al 1982, Rivera et al 1985, Rodewald et al 1982, Silengo et al 1981. Recently, a boy with a paternal duplication of chromosome 5ql1.2-5q14 was reported (Breslau-Siderius et al 1993).…”

Section: De Iiovo 5;21 Translocation and Congenital Malformationsmentioning

confidence: 99%

De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

1995

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Section: De Iiovo 5;21 Translocation and Congenital Malformationsmentioning

confidence: 99%

De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

1995

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“…Spanning from cytobands 5q15 to 5q31, they have been extensively described in association with Gardner syndrome and Familial Adenomatous Polyposis 1 (FAP1; MIM#175100), autosomal dominant conditions due to inactivating variants of the APC regulator of the WNT signaling pathway gene (APC, MIM*611731) in 5q22.2 [1][2][3][4][5]. In addition to the increased risk of developing neoplasms, patients with APC interstitial deletions reported so far present specific clinical symptoms, and several attempts have been described to better define the most commonly associated phenotype [6]. Characteristic features comprise intellectual disability (ID), developmental delay, craniofacial dysmorphisms, and skeletal or renal anomalies; other less frequent features are bifid uvula [1], seizure disorder, deafness, refractory anemia [2], recurrent respiratory infections [3], and umbilical hernia [4].…”

Section: Introductionmentioning

confidence: 99%

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

Privitera

Piccini

Recalcati

et al. 2023

Genes

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The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated. In this study, we described a new patient with a 19.85 Mb interstitial deletion identified by array-CGH and compared the deletions and the phenotypes reported in other patients already described in the literature and the Decipher database. Overlapping deletions allowed us to highlight a common region in 5q22.1q23.1, identifying KCNN2 (5q22.3) as the most likely candidate gene contributing to the neurologic phenotype.

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

et al. 1998

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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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De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment

Cited by 10 publications

References 12 publications

De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

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

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