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Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3
Author(s) -
Hackmann Karl,
Stadler Anja,
Schallner Jens,
Franke Kathlen,
Gerlach EvaMaria,
Schrock Evelin,
Rump Andreas,
Fauth Christine,
Tinschert Sigrid,
Oexle Konrad
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36155
Subject(s) - syndactyly , tetrasomy , medicine , anatomy , biology , chromosome , genetics , karyotype , gene
We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10‐year‐old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy–Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3–4, feet 2–3), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the FOXK2 gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17. © 2013 Wiley Periodicals, Inc.