A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)

@article{Jotterand1976ANC,
  title={A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)},
  author={M. Jotterand and E. Juillard},
  journal={Human Genetics},
  year={1976},
  volume={33},
  pages={213-222}
}
The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly… CONTINUE READING
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Trisomie 13 partielle par translocation 46 , XX , t ( 3 ; 13 ) ( p 26 ; q 21 ) materhelle

  • C. Stoll, A. Halb
  • Pediatrie XXIX
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Inherited translocations in two families ( t ( 14 q[; 10 q) and t ( 13 q; 21 q + )

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  • Humangenetik
  • 1973

Nicht balanzierte D/E-Translokation

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