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

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

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.

El síndrome por deleción del brazo corto del cromosoma 18 es poco frecuente. Se caracteriza por retardo mental, retardo en el crecimiento, malformaciones craneofaciales, que incluyen orejas largas, macrocefalia y cuello corto. La variabilidad fenotípica va desde anomalías congénitas menores a holoprosencefalia. Se presenta un caso de una niña de 10 años con deleción del brazo corto del cromosoma 18 (18p11.32-p11.21), caracterizado por citiogenética convencional e hibridación genómica comparada.

Keywords: 18p syndrome; Chromosome 18; Chromosome deletion.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • Phenotype

Supplementary concepts

  • Chromosome 18p deletion syndrome