Ring 13 chromosome with normal haptoglobin inheritance.

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…”

A Child With a Ring-4 Chromosome (46,XX/46,XX,r 4)

“…Comment Ring chromosomes have been re¬ ported in almost all groups (A through G) of human chromosomes, including the "X" chromosome. [9][10][11][12][13][14][15][16][17][18] Most persons, so far described, have had severe physical defects or have been mentally retarded, or both. Le¬ van19 first described ring chromo¬ somes in a man in 1956.…”

D13 ring chromosome syndrome.

“…Case 9 (Biles, Liiers, and Sperling, 1970) had an atrial septal defect confirmed at necropsy and Case 13 (Hollowell et al, 1971) Fallot's tetralogy. Foot and hand anomalies were various.…”