Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics.

Abstract

UNLABELLED:

Unbalanced translocation 6p/16q in one fetus is a very rare event and the prenatal sonographic findings have never been published before. We will give a short overview of the literature along with a case report focussing on prenatal ultrasound features and molecular cytogenetic analysis.

CASE DESCRIPTION:

A 21-year-old primigravid woman presented with a singleton pregnancy at 19 weeks' gestation. The fetus revealed a mild hydrocephalus, a ventricular septal defect (VSD), a Dandy-Walker malformation as well as an intrauterine growth retardation (IUGR) and limb anomalities. MLPA analysis from amniotic fluid cells showed an unbalanced translocation from the subtelomeric region of chromosome 6p to the subtelomeric region of chromosome 16q. Karyotype of the fetus was 46, XX.ishder(6)t(6;16)(p2?5;q?13)(pVYS246A+, pVYS228B-, pVYS229A+). Despite the karyotype the mother decided not to interrupt pregnancy. The fetus died in utero within the 39th week of gestation and was delivered vaginally after labour induction, with a birth weight of 1815g. Prenatal FISH and MLPA studies can be very important to help outline the chromosomal area of deletion and duplication and the sonographic findings forebode the cytogenetic region of interest. Subsequent to the processing of the case, a complete Medline search was conducted to review previous cases with similar genetic alterations.

• Authors: Alexander G Puhl, Julia Zelazny, Danuta Galetzka, Christine Skala, Gabriele Frey-Mahn, Brigitte Wellek, Heinz Koelbl
• Journal: European journal of obstetrics, gynecology, and reproductive biology (Eur J Obstet Gynecol Reprod Biol) Vol. 150 Issue 2 Pg. 119-25 (Jun 2010) ISSN: 1872-7654 [Electronic] Ireland
• PMID: 20211513 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright 2010 Elsevier Ireland Ltd. All rights reserved.

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics)
• Chromosomes, Human, Pair 16 (genetics)
• Chromosomes, Human, Pair 6 (genetics)
• Cytogenetics
• Dandy-Walker Syndrome (diagnostic imaging, genetics)
• Female
• Fetal Growth Retardation (diagnostic imaging, genetics)
• Humans
• Karyotyping
• Maxillofacial Abnormalities (diagnostic imaging, genetics)
• Pregnancy
• Prenatal Diagnosis
• Translocation, Genetic (genetics)
• Ultrasonography, Prenatal