Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature

Prenatal Diagnosis
Serena RedaelliLeda Dalprà

Abstract

To correlate confined placental mosaicism (CPM) for trisomy 15 with severe intrauterine growth restriction (IUGR) and early death after birth (age of 6 months). Chromosome analysis was performed on amniotic fluid at 21st week of gestation, on peripheral blood at birth and on fibroblasts at death using conventional techniques. FISH was performed with Chromoprobe I-Multiprobe System kit and commercial probes according to manufacturer's protocol. DNA was extracted from parental and child peripheral blood, placenta tissue and skin fibroblasts, and UPD tests were done with microsatellites selected from Genome Data Base. The child presented severe hypospadias, micropenis, bilateral cryptorchidism and bifid scrotum, inguinal hernia, dolichomegacolon, severe thymic lymphatic depletion and heart hypertrophy, mainly involving right ventricle. Mosaic trisomy 15 (84%) was discovered by FISH on placental biopsy at term. Uniparental disomy (UPD) for chromosome 15 was excluded. Prenatal (amniotic fluid), postnatal (peripheral blood) karyotypes and analysis on skin fibroblast metaphases were normal. Since the autopsy showed some features suggesting genetic syndromes, such as CATCH22, Williams-Beuren syndrome, matUPD2, we excluded the presence ...Continue Reading

References

May 1, 1992·Prenatal Diagnosis·D H LedbetterK L Copeland
Jul 1, 1987·Prenatal Diagnosis·B SchulzeK Miller
Jul 1, 1994·Prenatal Diagnosis·B RolandR Zinberg
Feb 1, 1994·British Journal of Obstetrics and Gynaecology·L S ChittyS Campbell
Jul 1, 1993·American Journal of Medical Genetics·E Engel
Apr 1, 1993·Prenatal Diagnosis·N Morichon-DelvallezM Vekemans
Apr 1, 1996·Prenatal Diagnosis·S L ChristianD H Ledbetter
Feb 2, 1996·American Journal of Medical Genetics·V D MarkovicE M Hutton
Apr 9, 1999·Archives of Disease in Childhood. Fetal and Neonatal Edition·V S Lestou, D K Kalousek
May 8, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·W P Robinson
Sep 20, 2001·Proceedings of the National Academy of Sciences of the United States of America·I TaddeiE A Lindsay
Aug 30, 2003·Archives of Pathology & Laboratory Medicine·Cira R T di GioiaPietro Gallo

❮ Previous
Next ❯

Citations

Jul 4, 2009·Taiwanese Journal of Obstetrics & Gynecology·Yung-Kuei SoongShuenn-Dyh Chang
Mar 29, 2008·Metabolic Syndrome and Related Disorders·Kristine Y Lain, Patrick M Catalano
Nov 24, 2006·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M ChenC-C Lin
Mar 5, 2015·American Journal of Medical Genetics. Part a·Jacob McPaddenSamantha A Schrier Vergano
Nov 13, 2007·American Journal of Obstetrics and Gynecology·Nikos PapadogiannakisMagnus Westgren
May 17, 2005·Prenatal Diagnosis
Jul 2, 2015·American Journal of Medical Genetics. Part a·Marisa SilvaHildeberto Correia
May 14, 2021·Human Reproduction Update·Geerke M EggenhuizenRobert Jan Galjaard

❮ Previous
Next ❯

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

Cardiomegaly

Cardiomegaly, known as an enlarged heart, is a multifactorial disease with different pathophysiological mechanisms. Hypertension, pregnancy, exercise-induced and idiopathic causes are some mechanisms of cardiomegaly. Discover the latest research of cardiomegaly here.