Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

Doheny, Kimberly F.; Rasmussen, Sonja A.; Rutberg, Julie; Semenza, Gregg L.; Stamberg, Judith; Schwartz, Marcia; Batista, Denise; Stetten, Gail; Thomas, George H.

doi:10.1002/(sici)1096-8628(19970317)69:2<188::aid-ajmg14>3.0.co;2-h

Cited by 10 publications

(2 citation statements)

References 24 publications

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“…the length of the inserted segment and the centromeric segment. In this way the smaller the inserted segment, the more likely it is that it could be tolerated in the trisomic or monosomic state and lead to viable unbalanced offspring [5]. Moreover, the longer the centromeric segment in proportion to the length of the whole chromosome, the more chances there are for crossing over events to occur, leading to unbalanced recombinant chromosomes.…”

Section: Introductionmentioning

confidence: 99%

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

et al. 2010

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BackgroundTwo related family members, a female and a male balanced carrier of an intrachromosomal insertion on chromosome 7 were referred to our centre for preimplantation genetic diagnosis. This presented a rare opportunity to investigate the behaviour of the insertion chromosome during meiosis in two related carriers. The aim of this study was to carry out a detailed genetic analysis of the preimplantation embryos that were generated from the three treatment cycles for the male and two for the female carrier.Patients underwent in vitro fertilization and on day 3, 22 embryos from the female carrier and 19 embryos from the male carrier were biopsied and cells analysed by fluorescent in situ hybridization. Follow up analysis of 29 untransferred embryos was also performed for confirmation of the diagnosis and to obtain information on meiotic and mitotic outcome.ResultsIn this study, the female carrier produced more than twice as many chromosomally balanced embryos as the male (76.5% vs. 36%), and two pregnancies were achieved for her. Follow up analysis showed that the male carrier had produced more highly abnormal embryos than the female (25% and 15% respectively) and no pregnancies occurred for the male carrier and his partner.ConclusionThis study compares how an intrachromosomal insertion has behaved in the meiotic and preimplantation stages of development in sibling male and female carriers. It confirms that PGD is an appropriate treatment in such cases. Reasons for the differing outcome for the two carriers are discussed.

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Section: Introductionmentioning

confidence: 99%

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

et al. 2010

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“…[33][34][35] The translocation t(9;12) has led to the identification of a novel fusion in which the HLH domain of ETV6 is fused to the JAK2 kinase in ALL and AML. 36,37 Our findings confirm that ETV6 may be involved in translocations with a number of other chromosomes; 1p13, 1q31, 14q11 and 15q15.…”

Section: Figurementioning

confidence: 99%

Abnormalities of the ETV6 gene occur in the majority of patients with aberrations of the short arm of chromosome 12: a combined PCR and Southern blotting analysis

et al. 1998

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Usefulness of high‐resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities

2002

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Comparative genomic hybridization (CGH) is a technique for detection of chromosomal imbalances in a genomic DNA sample. We here report the application of the recently developed method of high-resolution CGH on DNA samples from 66 children having various degrees of delayed psychomotor development with or without clear dysmorphic features and congenital malformations. In 5 of 50 patients with apparently normal karyotypes, a deletion or duplication was revealed by CGH. Only one of these cases had a subtelomeric rearrangement. In one of seven cases with a de novo apparently balanced translocation, deletions were found. In all nine cases where the origin of a marker chromosome or additional chromosomal material was difficult to determine, CGH gave a precise identification. The following findings were from cases having a deletion or duplication as the sole chromosomal imbalance; dup(2)(p16p21), del(4)(q21q21), del(6) (q14q15), del(6)(p12p12), dup(6)(q24qter), and dup(15)(q11q13). One case had dup(9) (p11pter) combined with a very small subtelomeric deletion on 6q. In our hands, CGH is highly useful not only for identifying known chromosomal imbalances, but also for finding elusive deletions or duplications in the large group of children with developmental delay with or without congenital abnormalities. In such cases, the diagnostic yield of CGH appears to be higher than what has been reported from subtelomeric FISH screening. ß

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Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

Cited by 10 publications

References 24 publications

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

Abnormalities of the ETV6 gene occur in the majority of patients with aberrations of the short arm of chromosome 12: a combined PCR and Southern blotting analysis

Usefulness of high‐resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities

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