Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

Midro, Alina T.; Panasiuk, Barbara; Stasiewicz‐Jarocka, Beata; Iwanowski, Piotr; Fauth, Christine; Speicher, Michael R.; Leśniewicz, R

doi:10.1034/j.1399-0004.2000.580212.x

Cited by 8 publications

(6 citation statements)

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“…7,16 Our observation confirms two previous suggestions of Saito et al 37 and Nicoulaz et al 35 that 1p36 region for pure distal terminal deletions, 411 Mb is the haplolethal. Although many large 1p36 deletions~10-11 Mb in size are likely nonlethal, 39,[42][43][44] additional observations are necessary to determine if monosomy 1p36-pter sized 411 Mb is risk factor for limited survival rate.…”

Section: Discussionsupporting

confidence: 94%

“…1,2 The collection of relatively numerous empirical and cytogenetic data of individual RCT carrier pedigrees is necessary to ascertain the risks of malsegregation associated with particular translocations. [5][6][7][8][9] Because the risk of malsegregation is dependent on the size and chromosomal origins of the segments involved and placement of the break points, the accuracy of identifying the break point positions for particular RCT is crucial. High-resolution molecular cytogenetic techniques, like metaphase, interphase and fiber fluorescent in situ hybridization (FISH), sequence-tagged site (STS) marker walking and sequencing of chromosomal regions containing the rearrangement break points and junctions, may be useful for better characterization of specific rearrangements.…”

Section: Introductionmentioning

confidence: 99%

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Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

et al. 2014

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Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pregnancy outcomes. Submicroscopic molecular characterization by fluorescent in situ hybridization (FISH) of RCT break points in representative carriers showed similar rearrangements in both families. Meiotic segregation patterns after sperm analysis by three-color FISH of one male carrier showed all possible outcomes resulting from 2:2 and 3:1 segregations. On the basis of empirical survival data, we suggest that only one form of chromosome imbalance resulting in monosomy 1p36.22→pter with trisomy 11q12.2→qter may be observed in progeny at birth. Segregation analysis of these pedigrees was performed by the indirect method of Stengel-Rutkowski and showed that probability rate for malformed child at birth due to an unbalanced karyotype was 3/48 (6.2±3.5%) after ascertainment correction. The risk for stillbirths/early neonatal deaths was -/48 (<1.1%) and for miscarriages was 17/48 (35.4±6.9%). However, the probability rate for children with a normal phenotype at birth was 28/48 (58.3±7.1%). The results obtained from this study may be used to determine the risks for the various pregnancy outcomes for carriers of t(1;11)(p36.22;q12.2) and can be used for genetic counseling of carriers of this rearrangement.

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Section: Discussionsupporting

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

et al. 2014

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“…The terminal part of chromosome 19 is known as a gene density region [ 30 ]. Our data confirm the general rule saying that the probability rate for viable unbalanced child from carriers of a double segment imbalance is generally lower compared to the rates for carriers of a single segment imbalance [ 18 , 31 ]. That is because the other forms of imbalance presumably lead to miscarriages.…”

Section: Discussionsupporting

confidence: 88%

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations

et al. 2017

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BackgroundCarriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified by the impact of the partner chromosome imbalance. Familial transmission studies of RCT enable obtaining empirical risk figures that are essential for genetic counseling. In this study, pedigree data from carriers of a unique t(4;19)(p15.32;p13.3), ascertained by two children with WHS phenotype, were collected through five generations and empirical risk for different pregnancy outcomes was assessed. In addition, the phenotype-karyotype correlation was studied in two unbalanced children against the phenotypes of children (literature data) with pure monosomy 4p15.32 → pter and pure trisomy 19p13.3 → pter, accordingly. The phenotype analysis was conducted using the catalogue of traits according to the Munich Dysmorphology Database. Pedigree segregation analysis was conducted by the direct method according to Stengel- Rutkowski et al.ResultsA double segment imbalance, trisomy 19p13.3 → pter with monosomy 4p15.32 → pter, was diagnosed in WHS progeny at birth. No essential modification of WHS phenotype by the additional trisomy 19p was observed, except for a limited survivability (death in infancy). Pedigree segregation analysis covered 39 relatives showed the probability rate for liveborn with unbalanced karyotype of 3.7 ± 3.6% (1/27), for stillbirth/neonatal death at 7.4 ± 5.0% (2/27), for miscarriage at 22.2 ± 8.0% (6/27), for the chance of having a baby without unbalanced karyotype was estimated at 66.7 ± 9.1% (18/27). In addition, the value of 7.4% for genetic counseling for any carrier of RCT at risk for single segment 19p13.3 → pter imbalance at birth was evaluated as such value have not been estimated so far.ConclusionCarriership of a t(4;19)(p15.32;p13.3) is at low risk for an unbalanced child at birth and for stillbirth/neonatal death but high for miscarriages. The chance of having a baby without unbalanced karyotype was estimated to be high. Monosomy 4p15.32 → pter together with trisomy 19p13.3 → pter as a double segment imbalance in children with WHS may be connected with a limited survivability in infancy.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-017-0330-8) contains supplementary material, which is available to authorized users.

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“…Probability rates obtained for families with RCT at risk of single‐segment imbalance may be useful for families of RCT carriers at risk of double‐segment imbalances in case of families with relatively small number of members, as it has been shown previously (2, 4, 5) and re‐evaluated by us (33). It is based on comparison of two probability rates for each segment imbalance obtained independently from families at risk of single‐segment imbalance.…”

Section: Discussionmentioning

confidence: 60%

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Stasiewicz‐Jarocka

Haus

Assche³

et al. 2004

Clinical Genetics

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Families with balanced chromosomal changes ascertained by unbalanced progeny, miscarriages, or by chance are interested in their probability for unbalanced offspring and other unfavorable pregnancy outcomes. This is usually done based on the original data published by Stengel-Rutkowski et al. several decades ago. That data set has never been updated. It is particularly true for the subgroup with low number of observations, to which belong reciprocal chromosomal translocations (RCTs) with breakpoint in an interstitial segment of 16q. The 11 pedigrees from original data together with the new 18 pedigrees of RCT carriers at risk of single-segment imbalance detected among 100 pedigrees of RCT carriers with breakpoint position at 16q were used for re-evaluation of the probability estimation for unbalanced offspring at birth and at second trimester of prenatal diagnosis, published in 1988. The new probability rate for unbalanced offspring after 2 : 2 disjunction and adjacent-1 segregation for the total group of pedigrees was 4 +/- 3.9% (1/25). In addition, the probability estimate for unbalanced fetuses at second trimester of prenatal diagnosis was calculated as 2/11, i.e. 18.2 +/- 11.6%. The probability rates for miscarriages and stillbirths/early deaths were about 16 +/- 7.3% (4/25) and <2% (0/25), respectively. Considering different segment lengths of 16q, higher probability rate (0/8, i.e. <6.1%) for maternal RCT carriers at risk of distal 16q segment imbalance (shorter segment) was obtained in comparison with the rate (0/10, i.e. <4.8%) for RCT at risk of proximal segment imbalance (longer segment). It supports findings obtained from the original data for RCT with other chromosomes, where the probability for unbalanced offspring generally increased with decreasing length of the segments involved in RCT. Our results were applied for five new families with RCT involving 16q, namely three at risk of single-segment imbalance [t(8;16)(q24.3;q22)GTG, ish(wcp8+,wcp16+;wcp8-,wcp16+), t(11;16)(q25;q22)GTG, and t(11;16)(q25;q13)GTG] and two with RCT at risk of double-segment imbalance [t(16;19)(q13;q13.3)GTG, isht(16;19)(q13;q13.3) (D16Z3+,16QTEL013-D19S238E+,TEL19pR-; D16Z3-, D19S238E-,TEL19pR+), and t(16;20)(q11.1;q12)GTG, m ish,t(16;20)(wcp16+,wcp20+;wcp16+,wcp20+)]. They have been presented in details to illustrate how the available empiric data could be used in practice for genetic counseling.

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Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

Cited by 8 publications

References 3 publications

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

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