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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]

Author information

1
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia. hmpachajoa@icesi.edu.co.
2
Fundación Valle del Lili, Cali, Colombia.

Abstract

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.

KEYWORDS:

18p syndrome; Chromosome 18; Chromosome deletion

PMID:
27869431
DOI:
10.5546/aap.2016.e448
[Indexed for MEDLINE]
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