Open AccessFirst Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell syndrome
Author(s) -
Nishath Hamza,
Musallam AlAraimi,
Kamla Al Salmani,
Salwa Al Obeidani
Publication year - 2022
Publication title -
sultan qaboos university medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.258
H-Index - 27
eISSN - 2075-0528
pISSN - 2075-051X
DOI - 10.18295/squmj.4.2022.033
Subject(s) - proband , locus (genetics) , medicine , derivative chromosome , gene duplication , chromosome , phenotype , genetics , pediatrics , chromosome 7 (human) , gene , biology , mutation
Silver-Russell Syndrome (SRS) is a disorder that is primarily characterized by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband), with severe congenital anomalies. The proband carried a >25Mb duplication of the chromosomal 11p15-11pter locus of chromosome 13; creating a derivative chromosome 13 [der(13)] and was reported as 46,XX,der(13)add(11p15-11pter). A methylation-sensitive assay confirmed a diagnosis of Silver-Russell Syndrome (SRS). Although the prognosis for SRS patients is generally good, our proband presented with a clinically severe phenotype culminating in death at nine months. To the best of our knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus being reported in a patient with SRS.
Keywords: Silver-Russell syndrome, growth retardation, imprinting, derivative chromosome.