D. Smeets et al., AT LEAST 9 CASES OF TRISOMY 11Q23-]QTER IN ONE GENERATION AS A RESULTOF FAMILIAL T(11-13) TRANSLOCATION, Journal of Medical Genetics, 34(1), 1997, pp. 18-23
Carriers of balanced reciprocal translocations may have a (high) risk
for producing liveborn children with an unbalanced karyotype. We repor
t a large family in which a translocation between the long arm of chro
mosome 11 and the short arm of chromosome 13 is segregating in at leas
t five generations, During the course of our study 15 carriers of the
balanced translocation were identified and nine cases of partial triso
my of the long arm of chromosome 11 were defected during pre- and post
natal studies. Several of the patients were thoroughly clinically exam
ined and compared with similar published cases.