Multiple congenital defects associated with trisomy for long arm of No. 4.
The clinical and cytogenetic findings of a male infant with multiple congenital anomalies and trisomy for the distal third of the long arm of No. 4 are described. The abnormal chromosome was inherited from the mother who had a balanced translocation, t(4;9)(q31;q34). Trisomy for the long arm of No. 4 has previously been described in only 3 patients.
D000015:Abnormalities, Multiple; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy