A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities. We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia. Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35). A brief review of the literature is also presented.
Arm ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 2 ; Cleft Palate ; Ear ; Female ; Foot ; Hand ; Hernia, Inguinal ; Humans ; Hypertelorism ; Karyotype ; Microcephaly ; Mouth