Multiple congenital anomalies associated with a ring-D chromosome.

Abstract

Ring chromosomes have now been observed in all except one group of the human karyotype, though, as yet, a syndrome has not been recognized which is characterized by the presence of a ring. Ring chromosomes have been observed in group A

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

“…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…”

“… Patients reported in the literature with 13q deletion and one or more features of the VACTERL association. a Serena‐Lungarotti et al, 1979; Lamont et al, 1989; Coffin and Wilson, 1970; Teplitz et al, 1967; Battin et al, 1988; b Allderdice et al, 1969(2); Tolksdorf et al, 1969; Bartsch et al, 1996; c Brown et al, 1993, 1995; Hollowell et al, 1971; Towfighi et al, 1987; Varela and Sternberg, 1969; d Brown et al, 1993; Hoo et al, 1974; Lamont et al, 1989; MacIntyre et al,1964; e Brown et al, 1995; Fryns et al, 1980; Allderdice et al, 1969; Pai et al, 1979; Nichols et al, 1979; Weisswichert and Stögmann, 1979; Fryns, 1974; Grindel et al, 1999; f Grace et al, 1971; g Yunis et al, 1981; h Tefler et al, 1980; Tranebjaerg et al, 1988; i Serena‐Lungarotti et al, 1979; Schmid et al, 1975; Bartsch et al, 1996; j Allderdice et al, 1969; Magenis et al, 1976; Vittu et al, 1989; Benn et al, 1983; k Gershoni‐Baruch and Zekaria, 1996; Martin et al, 1982; Borduroglu et al, 1998; l Adams, 1965; Carnevale et al, 1984; Faed et al, 1969; Carmichael et al, 1977; m Benn et al, 1983; n Brown et al, 1995; o Grindel et al, 1999; p Juberg et al, 1969; Grindel et al, 1999; q Laurent et al, 1967, Sparkes et al, 1967; r Brown et al, 1995; s Martin et al, 1982; Bamforth and Lin, 1997; t Wilroy et al, 1976; Bain and Gauld, 1963; Orbeli et al, 1971; Nishikawa et al, 1985; Opitz et al, 1969; u Benn et al, 1983(2); Biles et al, 1970; Goldsmith et al, 1993; v current patient; w Guala et al, 1997. …”

Ring Chromosome 13, A Rare Case Report

“…Minasi et al described the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q; this case was characterized by malformations of the brain, eyes, distal limbs and genitourinary tract, as well as a severe intellectual disability. The subject's karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13) 6 , and a chromosomal microarray analysis detected a 15.39 Mb deletion. They suggested that further studies were needed to define whether genetic haploinsufficiency was associated with each major 13q deletion anomaly or whether one or more putative genes of the critical regions are contributing to these congenital malformations 2 .…”

“…A ring D chromosome was first described in a male subject in 1962 by Wang et al [4][5][6] . There are considerable phenotypic variations in patients who carry a ring chromosome in either the complete or the mosaic form 5 .…”

Ring chromosome 13 syndrome

“…Bain & Gauld (1963) were the first to describe a case. Lejeune et al (1968) and Juberg et al (1969) proposed the existence of the "Dr" syndrome.…”