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Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
Author(s) -
Tsao Chang Y.,
Wenger Gail D.,
Bartholomew Dennis W.
Publication year - 2005
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.30592
Subject(s) - hypsarrhythmia , hyperglycinemia , heterotopia (medicine) , karyotype , medicine , schizencephaly , epileptic spasms , pediatrics , genetics , chromosome , epilepsy , anatomy , biology , psychiatry , glycine , amino acid , gene
Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia. © 2005 Wiley‐Liss, Inc.