Pseudotrisomy 13: Clinical Findings and Genetic Implications

The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus s...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Fetal diagnosis and therapy 2005-11, Vol.20 (6), p.501-503
Hauptverfasser:	Schulz, Solveig, Gerloff, Claudia, Kalinski, Thomas, Mawrin, Christian, Kanakis, Dimitrios, Haas, Dorothea, Hahn, Heidi, Wieacker, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Diploidy Female Gynecology. Andrology. Obstetrics Heart Defects, Congenital - diagnosis Heart Defects, Congenital - diagnostic imaging Heart Defects, Congenital - genetics Holoprosencephaly - diagnosis Holoprosencephaly - diagnostic imaging Holoprosencephaly - genetics Humans Karyotyping Malformations of the nervous system Management. Prenatal diagnosis Medical sciences Neurology Polydactyly - diagnosis Polydactyly - diagnostic imaging Polydactyly - genetics Pregnancy Pregnancy. Fetus. Placenta Prenatal Diagnosis Syndrome Ultrasonography, Prenatal
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed.
ISSN:	1015-3837 1421-9964
DOI:	10.1159/000088038