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

Elena Inzaghi; Annalisa Deodati; Carla Bizzarri; GraziaMaria Ubertini; Stefania Pedicelli; Marco Cappa; Stefano Cianfarani

P1-386

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ESPE Abstracts (2019) 92 P1-386

ESPE2019 Poster Category 1 Growth and Syndromes (to include Turner Syndrome) (2) (23 abstracts)

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

Elena Inzaghi ^1,2 , Annalisa Deodati ^1,2 , Carla Bizzarri ¹ , GraziaMaria Ubertini ¹ , Stefania Pedicelli ¹ , Marco Cappa ¹ & Stefano Cianfarani ^1,2,3

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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.