Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
Journal
Clinical Dysmorphology
ISSN
0962-8827
Date Issued
2024
Author(s)
Sofía Catena
Paulina Morales
Guillermo Lay-Son
Type
journal-article
Abstract
<jats:p>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.</jats:p>
Cite this document
Urzua, A., Catena, S., Morales, P., & Lay-Son, G. (2024). Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion. Clinical Dysmorphology, 33(3), 105-109. https://doi.org/10.1097/MCD.0000000000000483
Subjects
11p duplication
;
11q deletion
;
genetic counseling
;
hypospadias (hp:0000047)
;
intrauterine growth retardation (hp:0001511)
;
pericentric inversion
;
russell-silver syndrome
;
severe failure to thrive (hp:0001525)