engleski

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

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.

genetic counseling ; reciprocal chromosomal translocation ; chromosome 16

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