Follow-up of a familial translocation t(10;16) with an unusual segregation pattern

Resta, Robert G.; Luthardt, Frederick W.; Kapur, Raj P.

doi:10.1002/(sici)1096-8628(19960517)63:2<363::aid-ajmg7>3.0.co;2-u

Cited by 3 publications

(1 citation statement)

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“…Non-disjunction of h16 might have di¡erent causes from non-disjunction of other human chromosomes because the risk of trisomy does not show the marked increase with advanced maternal age that is observed for the other smaller chromosomes (Risch et al 1986). Strong segregation distortion of a familial translocation t(10;16)(q26.3; p13.1) has been reported in one pedigree, but in this case it was the derivative chromosome with the h10 centromere that was transmitted to all 21 out of 21 o¡spring (Resta et al 1996).…”

Section: History Of Human Autosomes D Haig 1463 (P) Human Chromosome 16mentioning

confidence: 99%

A brief history of human autosomes

Haig

1999

Phil. Trans. R. Soc. Lond. B

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Comparative gene mapping and chromosome painting permit the tentative reconstruction of ancestral karyotypes. The modern human karyotype is proposed to differ from that of the most recent common ancestor of catarrhine primates by two major rearrangements. The first was the fission of an ancestral chromosome to produce the homologues of human chromosomes 14 and 15. This fission occurred before the divergence of gibbons from humans and other apes. The second was the fusion of two ancestral chromosomes to form human chromosome 2. This fusion occurred after the divergence of humans and chimpanzees. Moving further back in time, homologues of human chromosomes 3 and 21 were formed by the fission of an ancestral linkage group that combined loci of both human chromosomes, whereas homologues of human chromosomes 12 and 22 were formed by a reciprocal translocation between two ancestral chromosomes. Both events occurred at some time after our most recent common ancestor with lemurs. Less direct evidence suggests that the short and long arms of human chromosomes 8, 16 and 19 were unlinked in this ancestor. Finally, the most recent common ancestor of primates and artiodactyls is proposed to have possessed a chromosome that combined loci from human chromosomes 4 and 8p, a chromosome that combined loci from human chromosomes 16q and 19q, and a chromosome that combined loci from human chromosomes 2p and 20.

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Section: History Of Human Autosomes D Haig 1463 (P) Human Chromosome 16mentioning

confidence: 99%

A brief history of human autosomes

Haig

1999

Phil. Trans. R. Soc. Lond. B

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Ring chromosome 10: report on two patients and review of the literature

et al. 2012

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Ring chromosome 10--r(10)--is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.

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