Partial trisomy 13 with features similar to C syndrome.
We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of the mother for detection of balanced carriers is essential.
Phadke
Shubha R
SR
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in
Patil
S J
SJ
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D017689:Polydactyly / Q000235:genetics; D013577:Syndrome; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*