Proximal deletion of the long arm of chromosome 1: [del(1)(q23-q25)]

L J Lo, M S Noordhoff, C S Huang, K T Chen, Y R Chen
Cleft Palate-craniofacial Journal 1993, 30 (6): 586-9
A patient with bilateral complete cleft of the lip and palate (CLP) had a proximal deletion of the long arm of chromosome 1 (1q). This rare chromosomal abnormality was characterized by pre- and postnatal growth retardation, psychomotor retardation, and specific craniofacial and other systemic anomalies. There is a high incidence of CLP in proximal 1q deletion syndrome, especially bilateral CLP. Twelve other cases reported in the literature having this deletion and associated anomalies were reviewed.

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