A complex de novo translocation of chromosomes 4, 6 and 21 in a child with dysmorphic features and unusual hematological findings
A 5 1/2-year-old white male was referred to our institution for evaluation of easy bruising confined to lower extremities since infancy. His family history is not significant with healthy parents and six normal siblings. Physical examination revealed weight and height both in 50th and 75th percentile, respectively. Major findings included macrocephaly with prominent forehead, hypertelorism with inner and outer canthus distances both above 97th percentile, epicanthus folds, normal ears with prominent upper pinnae, thin, sharp nose with pointed tip, neck with pterygium coli appearance and shortened clavicles, short thumbs with hyperconvex nails that curved around tip of fingers, abnormally bowedmore »