Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss

Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may compensate for the same microdeletion, which may segregate through several generations without any...

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Veröffentlicht in:	Cytogenetic and genome research 2020-07, Vol.160 (5), p.245-254
Hauptverfasser:	Tolmacheva, Ekaterina N., Kashevarova, Anna A., Nazarenko, Lyudmila P., Minaycheva, Larisa I., Skryabin, Nikolay A., Lopatkina, Maria E., Nikitina, Tatyana V., Sazhenova, Elena A., Belyaeva, Elena O., Fonova, Elizaveta A., Salyukova, Olga A., Tarabykin, Victor S., Lebedev, Igor N.
Format:	Artikel
Sprache:	eng
Schlagworte:	Original Article
Online-Zugang:	Volltext
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