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Markholt S, Graakjaer J, Thim SB, et al. A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2. Clin Case Rep. 2017;5(7):1136-1140doi: 10.1002/ccr3.1004.
Markholt, S., Graakjaer, J., Thim, S. B., Høst, B., & Skytte, A. B. (2017). A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2. Clinical case reports, 5(7), 1136-1140. https://doi.org/10.1002/ccr3.1004
Markholt, Sara, et al. "A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2." Clinical case reports vol. 5,7 (2017): 1136-1140. doi: https://doi.org/10.1002/ccr3.1004
Markholt S, Graakjaer J, Thim SB, Høst B, Skytte AB. A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2. Clin Case Rep. 2017 Jun 01;5(7):1136-1140. doi: 10.1002/ccr3.1004. eCollection 2017 Jul. PMID: 28680612; PMCID: PMC5494398.
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Clin Case Rep. 2017 Jun 01;5(7):1136-1140. doi: 10.1002/ccr3.1004. eCollection 2017 Jul.

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

Clinical case reports

Sara Markholt, Jesper Graakjaer, Signe Bødker Thim, Bente Høst, Anne-Bine Skytte

Affiliations

  1. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
  2. Department of Clinical Genetics Lillebaelt Hospital Vejle Denmark.
  3. Department of Pediatrics Aarhus University Hospital Aarhus Denmark.

PMID: 28680612 PMCID: PMC5494398 DOI: 10.1002/ccr3.1004

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.

Keywords: Dilated intestines; Penta X syndrome; Pentasomy X; STR marker; genotyping; hypoplasia of the corpus callosum; microarray; nondisjunction; short femora

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