Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation.
We report on a 3-year-old boy with partial trisomy 8 p11.23-->pter and partial monosomy 4q34-->qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features. Although agenesis of the corpus callosum is not a rare finding among chromosomal abnormalities, partial trisomy 8p together with partial monosomy 4q, resulting from a maternal translocation, was not previously reported, to the best of our knowledge.
Işik
Uğur
U
Acibadem Institute of Neurologic Sciences, Istanbul, Turkey. ugurisik2002@yahoo.com
Başaran
Seher
S
Dehgan
Tahir
T
Apak
Memnune
M
D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D002898:Chromosomes, Human, Pair 8; D003337:Corpus Callosum / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005307:Fertilization in Vitro; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009006:Monosomy / Q000473:pathology*; D014178:Translocation, Genetic / Q000502:physiology*; D014314:Trisomy / Q000473:pathology*