Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.
We report on a 4-year-old boy with a proximal interstitial deletion in the short arm of chromosome 4p with the karyotype 46,XY,del(4)(p14p15.32),inv(9)(p13q13). For a precise delineation of the deleted region, an array-based comparative genomic hybridization (a-CGH) analysis was performed. The proband's phenotype and cytogenetic findings are compared with previously reported cases with proximal 4p deletion syndrome. The syndrome is associated with normal growth, varying degrees of mental retardation, characteristic facial appearance and minor dysmorphic features. Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia.
Gawlik-Kuklinska
Katarzyna
K
Department of Biology and Genetics, Medical University of Gdansk, ul. Debinki 1, 80-211 Gdansk, Poland.
Wierzba
Jolanta
J
Wozniak
Agnieszka
A
Iliszko
Mariola
M
Debiec-Rychter
Maria
M
Dubaniewicz-Wybieralska
Miroslawa
M
Limon
Janusz
J
D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D054091:Periventricular Nodular Heterotopia / Q000235:genetics* / Q000473:pathology