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Arch Argent Pediatr. 2016 Dec 1;114(6):e448-e449. doi: 10.5546/aap.2016.e448.

[Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype].

[Article in Spanish; Abstract available in Spanish from the publisher]

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Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
Fundación Valle del Lili, Cali, Colombia.


in English, Spanish

Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization.


18p syndrome; Chromosome 18; Chromosome deletion

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