A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2. Issue 7 (1st June 2017)

• Record Type: Journal Article
• Authors: Markholt, Sara; Graakjaer, Jesper; Thim, Signe Bødker; Høst, Bente; Skytte, Anne‐Bine
• Is Part Of: Clinical case reports. Volume 5:Issue 7(2017)
• Page Start: 1136
• Page End: 1140
• Publication Date: 2017-06-01
• Subjects: Dilated intestines -- genotyping -- hypoplasia of the corpus callosum -- microarray -- nondisjunction -- Penta X syndrome -- Pentasomy X -- short femora -- STR marker; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1004
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a result of successive nondisjunctions of the X chromosomes in both maternal meiotic divisions. Abstract : The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a result of successive nondisjunctions of the X chromosomes in both maternal meiotic divisions.