A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.
BACKGROUND
Microdeletions of various sizes in the 2p16.1-p15 chromosomal region have been grouped together under the 2p16.1-p15 microdeletion syndrome. Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15.


RESULTS
Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of autistic behaviors. Microduplications many times bear milder clinical phenotypes in comparison with corresponding microdeletion syndromes. Indeed, as compared to the microdeletion syndrome patients, the 2p16.1-p15 microduplication seems to have a milder cognitive effect and no effect on other body systems. Limited information available in genetic databases about cases with overlapping duplications indicates that they all have abnormal developmental phenotypes.


CONCLUSIONS
The involvement of genes in this location including BCL11A, USP34 and PEX13, affecting fundamental developmental processes both within and outside the nervous system may explain the clinical features of the individual described in this report.
The Pediatric Neurology and Developmental Unit, Loewenstein Rehabilitation Hospital 278 Ahuza Street, Raanana, 43100, Israel; Sackler Faculty of Medicine, Tel-Aviv University, P.O. 39040, Ramat-Aviv, Tel-Aviv, 69978, Israel. Electronic address: Aviva100@bezeqint.net.
Aviva
A
Mimouni-Bloch
Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Campus and Schneider Children's Medical Center of Israel, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel. Electronic address: JYeshaya@clalit.org.il.
Josepha
J
Yeshaya
Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Campus and Schneider Children's Medical Center of Israel, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel. Electronic address: Saritka1@clalit.org.il.
Sarit
S
Kahana
Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Campus and Schneider Children's Medical Center of Israel, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel. Electronic address: Iditdanny@gmail.com.
Idit
I
Maya
Sackler Faculty of Medicine, Tel-Aviv University, P.O. 39040, Ramat-Aviv, Tel-Aviv, 69978, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Campus and Schneider Children's Medical Center of Israel, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel. Electronic address: basel@post.tau.ac.il.
Lina
L
Basel-Vanagaite
D001321:Autistic Disorder / Q000209:etiology / Q000523:psychology; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003072:Cognition Disorders / Q000209:etiology / Q000523:psychology; D002658:Developmental Disabilities / Q000235:genetics; D020440:Gene Duplication / Q000235:genetics*; D006257:Head / Q000033:anatomy & histology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D046228:Microarray Analysis; D008831:Microcephaly / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D012097:Repressor Proteins; D013577:Syndrome; D064570:Ubiquitin-Specific Proteases / Q000235:genetics
C486563:BCL11A protein, human; D002352:Carrier Proteins; D008565:Membrane Proteins; D009687:Nuclear Proteins; C101884:PEX13 protein, human; D012097:Repressor Proteins; C584673:USP34 protein, human; D064570:Ubiquitin-Specific Proteases
2p microdeletion syndrome; Chromosome 2; Developmental delay; Microduplication