Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH)

S Li; C M Tuck-Muller; J E Martínez; E R Rowley; H Chen; W Wertelecki

doi:10.1002/(sici)1096-8628(19981228)80:5<487::aid-ajmg9>3.0.co;2-y

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH)

Am J Med Genet. 1998 Dec 28;80(5):487-90. doi: 10.1002/(sici)1096-8628(19981228)80:5<487::aid-ajmg9>3.0.co;2-y.

Authors

S Li¹, C M Tuck-Muller, J E Martínez, E R Rowley, H Chen, W Wertelecki

Affiliation

¹ Department of Medical Genetics, University of South Alabama, Mobile 36688-0002, USA. sli@usamail.usouthal.edu

PMID: 9880213
DOI: 10.1002/(sici)1096-8628(19981228)80:5<487::aid-ajmg9>3.0.co;2-y

Abstract

We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major malformations.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 18 / genetics*
Female
Fetal Alcohol Spectrum Disorders / genetics
Gene Duplication*
Humans
In Situ Hybridization, Fluorescence
Pregnancy
Prenatal Diagnosis
Trisomy