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Updated: Aug 17, 2026

FISH for Pre-implantation Genetic Diagnosis
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Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Fowzan S Alkuraya1, Jonathan Picker, Mira B Irons
1Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, MA 02115, USA. Fowzan.Alkuraya@childrens.harvard.edu
Background:
Trisomy 13 and Smith-Lemli-Opitz syndrome (SLOS) are both well-recognized multiple congenital anomaly/mental retardation syndromes.
Case:
In this report we describe a male newborn with trisomy 13 who also has features of SLOS, such as 2/3 toe syndactyly and a shawl-like scrotum. Biochemical analysis was consistent with SLOS, and limited molecular analysis revealed 1 mutation in the DHCR7 gene.
Conclusions:
The challenges in establishing the diagnosis of SLOS in this patient are presented and the unique coexistence of the 2 major malformation syndromes is discussed. Given the overlapping phenotype of the 2 syndromes, our report should encourage further research on cholesterol biosynthesis in patients with trisomy 13.
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