Partial trisomy 15q: report of a patient and literature review
Chandler, K.; Schrander-Stumpel, C.T.; Engelen, J.; Theunissen, P.; Fryns, J.P.
Genetic Counseling 8(2): 91-97
1997
ISSN/ISBN: 1015-8146 PMID: 9219006 Document Number: 477224
We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup(15)(pter fwdarw q26.3::q24 fwdarw qter) was concluded. We compare her data with the literature. No specific phenotype was found.
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