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

Limb deficiencies in infants with trisomy 13

“…Wilson [1990] postulated that both the interactive and additive hypotheses for karyotype/phenotype correlation would account for the interpretation of aneuploid phenotypes. However, our results and the fact that some types of limb deficiencies such as absent or hypoplastic thumbs also were described in other alterations of chromosome 13 [Wilroy et al, 1977; Nichols et al, 1979; Schinzel, 1984; Rodríguez de Alba et al, 1999] are consistent with the interactive hypothesis.…”

“…Although there are only two published cases with trisomy 13 and oligodactyly [Fonti et al, 1967; Kuschel and Gillessen‐Kaesbach, 2000] and one more case with ectrodactyly [Urioste et al, 1994], absent or hypoplastic thumbs were described in other structural alterations of chromosome 13 such as partial deletions and ring chromosome 13 [Wilroy et al, 1977; Nichols et al, 1979; Schinzel, 1984; Rodríguez de Alba et al, 1999]. However, we identified four infants who presented with any type of limb deficiencies among 75 cases with trisomy 13 once we excluded those cases with hypoplasia of the distal phalanges of the fingers and/or toes as the only limb deficiencies.…”

“…Recently, Kuschel and Gillessen‐Kaesbach [2000] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as the second published since Fonti et al [1967] described the first case. Nevertheless, absent or hypoplastic thumbs were described in alterations of chromosome 13 (i.e., partial deletions and ring chromosome 13) [Wilroy et al, 1977; Nichols et al, 1979; Schinzel, 1984; Rodríguez de Alba et al, 1999].…”

Pericentric inversion causing duplication and deletion of chromosome region 13q22 → qter in the offspring

“…Partial monosomy, Homo sapiens autosome (HSA) 13q and partial trisomy HSA 13q have been reported previously with wide clinical variability depending on the region involved. Duplication and deletion occurring in the same family due to maternal balanced translocation has been reported [Wilroy et al, 1976; Rodriguez de Alba et al, 1999]. Here, we report duplication and deletion of HSA 13q22 → qter in the same family due to maternal pericentric inversion.…”

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

“…Chromosome 5 very rarely participates in reciprocal translocations in couples with reproductive problems. Reciprocal translocations t(5;13) with different breakpoints have been published in six subjects in the literature, whereas only one case was found in an infertile man (Dimova et al 2003;Masuno et al 1991;Rodríguez de Alba et al 1999;Stana and Lungeanu 1999;Uchiyama et al 2002;Yanagisawa et al 1978). But molecular karyotyping shows that one rearrangement is often associated with other chromosomal changes, particularly those involving the loss of one sex chromosome or segmental duplications (Emanuel and Shaikh 2001;Manvelyan et al 2007).…”