Deletion long arm 13

Nielsen, Johannes; Homma, Akira; Christiansen, F.; Rasmussen, Kirsten; Saldaña-Garcia, P

doi:10.1007/bf00393617

Cited by 18 publications

(6 citation statements)

References 7 publications

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“…The phenotype associated with partial monosomies (Nielsen et al, 1977;Serena-Lungarotti et al, 1979;Rivera et al, 1985;Chen et al, 1996) and trisomies of 13q (Rogers, 1984) has been widely reported. The variable manifestations depend on the breakage point, more specifically, band 13q32 has been defined as a critical region associated with thumb and/or big toe anomalies and major developmental abnormalities (Brown et al, 1993); the trisomy of this band has been related to polydactyly (Noel et al, 1976) and the monosomy to absent thumbs (Brown et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

et al. 1999

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Section: Discussionmentioning

confidence: 99%

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

et al. 1999

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“…Interstitial deletions distal to 13q14 that are also proximal to 13q32 are associated with mild to moderate mental retardation, variable dysmorphic features, and growth retardation [Dean et al, 1991]. Interstitial 13q21 deletion has been reported in one family; the affected members had normal phenotypes [Nielsen et al, 1977]. Deletions distal to 13q32 result usually in severe mental retardation but without major malformations or growth retardation.…”

Section: Discussionmentioning

confidence: 99%

“…This is despite published cases of distal 13q deletion patients who, while they are not described as such, fulfill the criteria for the VACTERL association. Our literature review included 142 patients with presumed distal 13q deletions, although 47 individuals did not have banded karyotypes [Adams, 1965; Allderdice et al, 1969; Bain and Gauld, 1963; Bamforth and Lin, 1997; Bartsch et al, 1996; Battin et al, 1988; Baud et al, 1999; Benn et al, 1983; Biles et al, 1970; Boduroglu et al, 1998; Bottani et al, 1991; Brondum‐Nielsen et al, 1981; Brown et al, 1993; Brown et al, 1995; Carmichael et al, 1977; Carnevale et al, 1984; Coco and Penchaszadeh, 1982; Coffin and Wilson, 1970; Cossu et al, 1979; Couturier et al, 1985; Cuschieri et al, 1977; Dean et al, 1991; Emanuel et al, 1979; Faed et al, 1969; Fried et al, 1975; Fryns et al, 1974, 1980; Gerald et al, 1967; Gershoni‐Baruch and Zekaria, 1996; Goldsmith et al, 1993; Grace et al, 1971; Grindel et al, 1999; Grösse and Schwanitz, 1973; Guala et al, 1997; Hollowell et al, 1971; Hoo et al, 1974; Ikeuchi et al, 1974; Juberg et al, 1969; Juberg and Mowrey, 1984; Kiss and Osztovics, 1989; Kistenmacher and Punnett, 1970; Kondo et al, 1985; Kučerová et al, 1975; Lam et al, 1998; Lamont et al, 1989; Laurent et al, 1967; Lehrke et al, 1971; LeJeune et al, 1968; Luquet et al, 1999; MacIntyre et al, 1964; Magenis et al, 1976; Martin et al, 1982; McCandless and Walker, 1976; Mikkelsen and Niebuhr, 1969; Nichols et al, 1979; Niebuhr and Ottosen, 1973; Nielsen et al, 1977; Nishikawa et al, 1985; Noel et al, 1976; Opitz et al, 1969; Orbeli et al, 1971; Pai et al, 1979; Reisman et al, 1965…”

Section: Discussionmentioning

confidence: 99%

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

2001

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We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromosome 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a critical region at 13q32 have multiple congenital malformations that include components of the VACTERL association. Our patient had all six manifestations of VACTERL association. In addition, he had complete penoscrotal transposition, a unique malformation reported rarely in VACTERL association and only twice previously in deletion of distal 13q. We reviewed all reported cases of distal 13q deletions to date. Of these 137 patients, 15 could be classified into the VACTERL association. Ours was the only patient with distal 13q deletion and all VACTERL association features and also the only one with tracheoesophageal fistula. Neither holoprosencephaly nor the other central nervous system malformations that have been seen in individuals with distal 13q deletions were apparent in him. The patient presented here appears to be unique among individuals with distal 13q deletion. His cluster of malformations strengthens the argument that distal 13q deletion is a cause for VACTERL association, and that this causal relationship implies a syndromic form of VACTERL. In addition, this case and those ascertained from the literature suggest that penoscrotal transposition should be considered part of both the distal 13q-deletion syndrome and some forms of VACTERL association.

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“…Interstitial deletions of chromosome 13 involving bands q14.3 to q21 have been previously reported and often have a relatively mild phenotype, involving mild to moderate mental retardation, variable minor anomalies, and growth retardation. 7,8 One familial deletion of only q21 is reported 9 in a mother and daughter who were described as completely normal. The authors, in 1985, suggested that this might be a gene-poor region based on the Giemsa banding and replication pattern, which suggested it was mostly heterochromatin.…”

Section: Discussionmentioning

confidence: 99%

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Jobanputra¹,

Sebat

Troge

et al. 2005

Genetics in Medicine

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Purpose: To demonstrate the accuracy and sensitivity of Representational Oligonucleotide Microarray Analysis (ROMA) to describe copy number changes in patients with chromosomal abnormalities. Methods: ROMA was performed using BglII digested DNA from two cases with cytogenetically detected deletions and one case with an unbalanced terminal rearrangement detected only by subtelomeric FISH. Hybridization was to an 85,000-probe oligonucleotide microarray, providing an average resolution of 35 kb. FISH was used to confirm some of the ROMA findings. Results: By ROMA, a del(13)(q14.3q21.2) was shown to be noncontiguous, with deletions extending from 53.08 to 61.40 Mb and from 72.88 to 74.83 Mb. The 10-Mb deletion contained only six known genes. FISH confirmed the noncontiguous nature of the deletion, as well as a small amplification in 6q that was also found in the patient's mother. A del(4)(q12q21.2) was found by ROMA to be 23 Mb in length, from 58.8 to 81.9 Mb on chromosome 4, in agreement with the cytogenetically assigned breakpoints. ROMA showed that an unbalanced "subtelomeric" rearrangement involved a 6-Mb deletion of 22q and an 8-Mb duplication of 16q. Conclusions:ROMA can define cytogenetic aberrations with extraordinary precision. Unexpected findings included the interrupted nature of the deletion in 13q and the large size of the imbalances in the "subtelomeric" rearrangement.Together with the information from the human genome sequence and proteomics, the ability to define rearrangements with "ultra-high" resolution will improve the ability to provide accurate prognosis both prenatally and postnatally to parents of offspring with chromosomal aberrations. Genet Med 2005:7(2):111-118.

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Deletion long arm 13

Cited by 18 publications

References 7 publications

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

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