Prenatal diagnosis of an interstitial 12q chromosome deletion

C Pérez Sánchez; F Ayensa; E Lloveras; L Zamora; V Cirigliano; E Pérez; A Plaja

doi:10.1016/j.anngen.2003.10.006

Prenatal diagnosis of an interstitial 12q chromosome deletion

Ann Genet. 2004 Apr-Jun;47(2):177-9. doi: 10.1016/j.anngen.2003.10.006.

Authors

C Pérez Sánchez¹, F Ayensa, E Lloveras, L Zamora, V Cirigliano, E Pérez, A Plaja

Affiliation

¹ Departament de Citogenètica, General Lab Laboratori d'Anàlisi, C/ Londres, 45, Barcelona 08036, Spain. [email protected]

PMID: 15183750
DOI: 10.1016/j.anngen.2003.10.006

Abstract

Rearrangements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Amniocentesis
Chromosome Deletion*
Chromosomes, Human, Pair 12 / genetics*
Female
Humans
Male
Pregnancy
Pregnancy Trimester, Third
Prenatal Diagnosis*