NDLI: Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).

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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Eggermann, Thomas Spengler, Sabrina Bachmann, Nadine Baudis, Michael Mau-Holzmann, Ulrike A. Singer, Sylke Rossier, Eva
Description	Country affiliation: Germany Author Affiliation: Eggermann T ( Institute of Human Genetics, RWTH Aachen, Germany. teggermann@ukaachen.de)
Abstract	The role of 11p15 disturbances in the aetiology of Silver-Russell syndrome (SRS) is well established: in addition to hypomethylation of the H19/IGF2 differentially methylated regions, five patients with a duplication of maternal 11p15 material have been described. We report on a boy with SRS carrying a maternally inherited duplication of chromosome 11p15. The patient showed the typical clinical picture of SRS including severe intrauterine and postnatal growth restriction, relative macrocephaly, a prominent forehead, a triangular face, down-turned corners of the mouth and fifth digit clinodactyly. Body asymmetry was not observed. By molecular genetic analyses, MLPA and microsatellite typing detected a duplication of chromosome 11p15 and cytogenetic analysis showed an unbalanced translocation t(11;15)(p15.5:p12). The size of the duplicated region is approximately 8.8 Mb as determined by SNP-array analysis. The healthy mother carried a balanced reciprocal chromosome translocation t(11;15). Thus, there is an increased risk for further children with SRS due to 11p15 duplication. Additionally, the family is at risk for offspring with an 11p15 deletion and Beckwith-Wiedemann syndrome whereby the phenotype will be influenced by haploinsufficiency of additional genes at 11p15 due to the deletion. The balanced aberrant karyotype was identified in several other family members, but interestingly there was no history of recurrent miscarriages, intrauterine fetal death, or multiple congenital anomaly syndromes in the family.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosomes, Human, Pair 11 Genetics Silver-russell Syndrome Translocation, Genetic Adult Child, Preschool Female Humans Male Mothers Polymorphism, Single Nucleotide Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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