Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
| Autor: | Valérie Raclin, J. P. Aubry, Michel Vekemans, Laurence Faivre, Arnold Munnich, Jelena Martinovic, Nicole Morichon-Delvallez, M. P. Pinson, Yves Dumez, Patrick Edery, Géraldine Viot |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Hydrops Fetalis Prenatal diagnosis Autopsy Facial Bones Ultrasonography Prenatal Pregnancy Prenatal Diagnosis Hypotelorism Humans Medicine Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Fetus Tricuspid valve 1p36 deletion syndrome business.industry Obstetrics Obstetrics and Gynecology medicine.disease medicine.anatomical_structure Chromosomes Human Pair 1 Karyotyping Gestation Female business Gene Deletion |
| Zdroj: | Prenatal Diagnosis. 19:49-53 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/(sici)1097-0223(199901)19:1<49::aid-pd450>3.0.co;2-c |
| Popis: | The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text