Meiotic consequences of pericentric inversions of chromosome 13

Abstract

A case is presented demonstrating meiotic consequences of inheritance of a pericentric inversion, inv(13)(p13q21), and suggesting, together with other similar reports reviewed, that certain manifestations (highly arched palate, long philtrum, polydactyly, microphthalmia, and capillary hemangiomata) result from duplication of the distal 13q while others (cleft lip/palate, scalp defects, congenital heart disease) result from duplication of the proximal 13q.

Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation.

“…Morphologically, the inverted chromosome may rarely appear as an acrocentric itself' or may appear as metacentric. 6 Using the conventional chromosome banding techniques the centromere position in the inverted chromosome may be difficult to determine precisely. The GTG banded chromosome 13 in the parent of our patient had an acrocentric appearance with a satellite on one terminus ( fig 1G).…”

Characterization of a familial balanced rec(13) in a child with mild MR and his half‐sibling with two structurally rearranged chromosomes 13

“…Parrington and Edwards [1971]; McDermott and Parrington [1975]; Koske‐Westphal et al [1978]; Habedank [1979, 1982]; Wenger and Steele [1981]; Pai et al [1987]…”

“…Pericentric inversions of chromosome 13 are rare with most cases ascertained postnatally as recombinants in patients with congenital anomalies and mental retardation/developmental delay, or in couples with a history of recurrent spontaneous abortions [Parrington and Edwards, 1971; Hauksdottir et al, 1972; Taysi et al, 1973; Mcdermott and Parrington, 1975; Koske‐Westphal et al, 1978; Wenger and Steele, 1981; Rijhsinghani et al, 1988; Cockwell et al, 2003; Phadke and Patil, 2004]. The types of gametes that are formed are determined by length of the inverted segment and the frequency of crossovers in and outside of the inversion loop.…”

“…The concomitant deletion or duplication of the short arm of chromosome 13 has no apparent effect on the phenotype. The duplication of chromosome 13q21/22 → 13qter is known to result from familial balanced pericentric inversions of chromosome 13 and has been reported in several cases [Parrington and Edwards, 1971; Hauksdottir et al, 1972; McDermott and Parrington, 1975; Koske‐Westphal et al, 1978; Escobar and Yunis, 1979; Habedank, 1979; Williamson et al, 1980; Wenger and Steele, 1981; Habedank, 1982; Maltby, 1984; Tharapel et al, 1986; Pai et al, 1987; Phadke and Patil, 2004]. Inversions of chromosome 13 involving more proximal breakpoints have been reported in only a few cases [Taysi et al, 1973; Lucas et al, 1983; Groupe de Cytogeneciens Francais, 1986].…”

Perinatal findings of partial trisomy 13q (13q14.1→qter) resulting from paternal pericentric inversion of chromosome 13

“…Recombinant chromosomes 13 with long-arm duplication and short-arm deletion have been observed in other cases resulting from parental pericentric inversions. These cases include trisomy 13q13→qter from maternal inv(13)(p12q13) (Lucas et al, 1983), trisomy 13q21→qter from maternal inv(13)(p13q21) (Wenger and Steele, 1981), trisomy 13q22→qter from maternal inv(13)(p11q21) (Habedank, 1982), trisomy 13q21→qter from paternal inv(13)(p11q21) (Bourthoumieu et al, 2004), trisomy 13q22→qter from paternal inv(13)(p11q22) (Williamson et al, 1980;Gordon et al, 1993), and trisomy 13q22→qter from maternal inv(13)(p13q22) (Maltby, 1984). The present case represents a very rare occurrence of recombination resulting from an inversion involving less than one-third of the chromosome length on chromosome 13.…”