Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subtelomeric rearrangements have been identified by MLPA test since conventional cytogenetic analysis may not be sensitive enough to detect very small deletions. Most 10q deletions occur de novo.
Method and results: We report two cases (mother and daughter). The mother has been diagnosed with congenital scoliosis, facial dysmorphism and congenital hypothyroidism with goiter; because the high doses of Euthyrox®, we assumed an enzyme deficiency. She was operated for goiter and thyroid hormone replacement was made successfully. The daugther has also facial dysmorphism and congenital hypothyroidism (Euthyrox replacement treatment).
Conclusion: Due to the association between congenital hypothyroidism and facial dysmorphism we recommended MLPA test who detected the presence of a subterminal 10q deletion for both, mother and daughter. In our family the risk of recurrence is high (50%). Once the family chromosome change is known, we recommended prenatal test in any future pregnancy to find out the presence of a subterminal 10q deletion.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology