DUPLICATION OF CHROMOSOME 16p13.11-p12.3 WITH DIFFERENT EXPRESSIONS IN THE SAME FAMILY
Journal
Balkan Journal of Medical Genetics
Date Issued
2021
Author(s)
Pop-Jordanova Nada
DOI
10.2478/bjmg-2021-0010
Abstract
The knowledge about genetic involvement in neurodevelopmental
disorders, and especially in autism, is currently
rising. To date, more than 100 gene mutations related
to autistic syndromes have been described. Some disorders
that affect multiple family members are caused by gene
mutations, which can be inherited. Recently, array comparative
genomic hybridization (aCGH) has identified sub
microscopic deletions and duplications as a common cause
of mental retardation and autism. In this article we report
the occurrence of the same genetic finding (chromosome
16p13.11-p12.3 duplication) in a family with four small
children, where two older siblings manifested a global
neurodevelopmental delay associated with an autism spectrum
disorder (ASD), but younger twin brothers with the
same mutation, have typical development. Genetic analysis
showed that the chromosomal duplication was inherited
from the father, in which phenotype and functioning are
quite typical. As is known, the duplication can pass from
parents to children. The 16p13.11 micro duplication has
been implicated in several neurodevelopmental and behavioral
disorders and is characterized by variable expressivity
and incomplete penetrance.
disorders, and especially in autism, is currently
rising. To date, more than 100 gene mutations related
to autistic syndromes have been described. Some disorders
that affect multiple family members are caused by gene
mutations, which can be inherited. Recently, array comparative
genomic hybridization (aCGH) has identified sub
microscopic deletions and duplications as a common cause
of mental retardation and autism. In this article we report
the occurrence of the same genetic finding (chromosome
16p13.11-p12.3 duplication) in a family with four small
children, where two older siblings manifested a global
neurodevelopmental delay associated with an autism spectrum
disorder (ASD), but younger twin brothers with the
same mutation, have typical development. Genetic analysis
showed that the chromosomal duplication was inherited
from the father, in which phenotype and functioning are
quite typical. As is known, the duplication can pass from
parents to children. The 16p13.11 micro duplication has
been implicated in several neurodevelopmental and behavioral
disorders and is characterized by variable expressivity
and incomplete penetrance.
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