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Editor—Cases with pure short arm deletion of chromosome 2 are rare. Among these cases chromosomal deletions within the region 2p21 to 2p23 have been associated with holoprosencephaly.1-3 Five cases with multiple anomalies, including microcephaly, have been reported to have more distal deletions within the region 2p23 to 2pter.4-7 Four cases have been reported with more proximal deletions involving segments 2p11-p21,8 2p13-p15,92p11-p13,10 and 2p11.2-p13.11 Patients in these cases were dysmorphic with psychomotor retardation. Wenger and McPherson12 reported a fifth case of a dysmorphic infant with del(2)(p11.2p13) who died at the age of 2 months. We report a case of a girl with severe neurodevelopmental delay associated with a small short arm interstitial deletion of chromosome 2, 46,XX,del(2)(p14p15). Two reported cases with larger interstitial deletions overlapping the segment 2p14p15 are reviewed for comparison.8 9 13
The proband, a 30 month old girl, was born at term by spontaneous vaginal delivery with Apgar scores of 9 and 9 at one and five minutes, respectively. The mother was gravida 2, para 1. The first child is a normal, healthy, 5 year old girl. The pregnancy was uneventful. At the birth of the proband, the mother and father were aged 22 and 27 years, respectively. The parents were consanguineous and of Arabic origin. Both parents were phenotypically normal. There was no known family history of congenital anomalies or mental retardation.
At birth, the proband had a weight of 3180 g (50th centile) and a length of 47 cm (25th centile) and presented with microcephaly …