Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion

• Published in: Clinical dysmorphology Vol. 33; no. 3; pp. 105 - 109
• Main Authors: Urzua, Abraham, Catena, Sofía, Morales, Paulina, Lay-Son, Guillermo
• Format: Journal Article
• Language: English
• Published: England 01-07-2024
• Subjects: Chromosome Inversion; Chromosomes, Human, Pair 11 - genetics; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Pedigree; Phenotype; Silver-Russell Syndrome - diagnosis; Silver-Russell Syndrome - genetics
• ISSN: 0962-8827; 1473-5717; 1473-5717
• DOI: 10.1097/MCD.0000000000000483

Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping. The mother was studied with karyotyping and subtelomeric FISH. We found a child with marked developmental delay and fatal outcome due to failure to thrive, carrying an 11p15 duplication and an 11q25 deletion of maternal origin. We discovered that the mother was a carrier of a pericentric inversion of chromosome 11, with a history of recurrence in other family members who had severe growth retardation and early death. To our knowledge, no similar SRS-like cases have been described in the literature. This report supports the importance of identification the causative genetic mechanism in SRS-like individuals with duplication in 11p15 region due to high risk of recurrence and to provide an appropriate genetic counseling to the family.