Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation


Tuysuz B. , HACIHANEFIOGLU S., SILAHTAROGLU A., YILMAZ S., DEVIREN A. , CENANI A.

GENETIC COUNSELING, cilt.11, ss.355-361, 2000 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 11 Konu: 4
  • Basım Tarihi: 2000
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.355-361

Özet

We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome.