ESPE Abstracts (2019) 92 P1-386

Prevalence of Copy Number Variations (CNVs) in a Cohort of SGA Children with Persistent short Stature Associated with Additional Clinical Features.

Elena Inzaghi1,2, Annalisa Deodati1,2, Carla Bizzarri1, GraziaMaria Ubertini1, Stefania Pedicelli1, Marco Cappa1, Stefano Cianfarani1,2,3


1D.P.U.O. "Bambino Gesù" Children's Hospital, Rome, Italy. 2University of Rome Tor Vergata, Rome, Italy. 3Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden


Background: Multiple factors may affect intrauterine growth leading to birth of children small for gestational age (SGA). The impact of subtle genetic alterations on both pre and post-natal growth is still largely unknown.

Objective and Hypotheses: The aim of this study was to investigate the prevalence of CNVs in a cohort of SGA children with persistent short stature.

Subjects and Methods: 26 SGA children (9.5 ± 1.2 yrs, 10F/16M) with short stature associated with dysmorphic features and/or developmental delay underwent array-CGH (aCGH) analysis.

Results: aCGH analysis showed CNVs in 50% (n=13) of short SGA children. Specifically, six patients had a microdeletion involving the following regions: 22q11.2, 8p21.2-8p12, 3q24q25.1, 19q13.11, 20q11.21q12, 15q26. In three females the same microdeletion involving 17p13.3 was found. In two patients the detected anomaly consisted of microduplication involving 10q21.3 and Xp11.3 region. In a female patient a compound microduplication was found (11q12.2 inherited from mother and Xq27.1 from father). In a boy the presence of both a microdeletion of 12p13.33 and a microduplication of 19q13.43 was observed.

Conclusions: These results show that CNVs can be detected by aCGH analysis in a large proportion of SGA children with short stature associated with additional clinical features. Interestingly, the involvement of 17p13.3 region occurs with a relative high frequency, suggesting that genes located in this region play a key role in pre and post-natal growth.

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