De novo trisomy 4pter leads to q21.
Clinical and cytogenetic findings in an infant girl with multiple congenital anomalies, principally anophthalmia, are presented. The patient's karyotype was 47,XX,+del(4)(pter leads to q21), the largest partial trisomy of chromosome 4 reported. The possible mechanism of the origin of this abnormality is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000853:Anophthalmos / Q000235:genetics; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014314:Trisomy