TY - JOUR
T1 - An emerging 1q21.1 deletion-associated neurodevelopmental phenotype
AU - Basel-Vanagaite, Lina
AU - Goldberg-Stern, Hadassa
AU - Mimouni-Bloch, Aviva
AU - Shkalim, Vered
AU - Böhm, Detlef
AU - Kohlhase, Jürgen
PY - 2011/1
Y1 - 2011/1
N2 - In this study, we describe the neurodevelopmental and epileptic phenotypes in a family with an inherited 1q21.1 deletion. During the pregnancy with the proband, increased nuchal translucency and oligohydramnion were detected. The proband showed mild global developmental delay and ataxic gait. Seizures started in the proband at the age of 2 years and manifested as generalized tonic-clonic seizures, atypical absence seizures, head drops, and drop attacks with no abnormal findings on interictal electroencephalogram. We performed an Agilent Human Genome CGH (comparative genomic hybridization) Microarray 105A, and a microdeletion on chromosome 1q21.1 was identified in both the patient and his asymptomatic father. This deletion encompasses 1.65 Mb and is larger than the reported recurrent class I deletions in this region. Cryptic cytogenetic abnormalities should be considered in patients with neurodevelopmental problems and atypical presentation of epilepsy with a normal electroencephalography (EEG).
AB - In this study, we describe the neurodevelopmental and epileptic phenotypes in a family with an inherited 1q21.1 deletion. During the pregnancy with the proband, increased nuchal translucency and oligohydramnion were detected. The proband showed mild global developmental delay and ataxic gait. Seizures started in the proband at the age of 2 years and manifested as generalized tonic-clonic seizures, atypical absence seizures, head drops, and drop attacks with no abnormal findings on interictal electroencephalogram. We performed an Agilent Human Genome CGH (comparative genomic hybridization) Microarray 105A, and a microdeletion on chromosome 1q21.1 was identified in both the patient and his asymptomatic father. This deletion encompasses 1.65 Mb and is larger than the reported recurrent class I deletions in this region. Cryptic cytogenetic abnormalities should be considered in patients with neurodevelopmental problems and atypical presentation of epilepsy with a normal electroencephalography (EEG).
KW - 1q211 microdeletion
KW - chromosome
KW - comparative genomic hybridization
KW - drop attacks
KW - epilepsy
KW - neurodevelopmental
UR - http://www.scopus.com/inward/record.url?scp=78651264784&partnerID=8YFLogxK
U2 - 10.1177/0883073810377658
DO - 10.1177/0883073810377658
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C2 - 21212457
AN - SCOPUS:78651264784
SN - 0883-0738
VL - 26
SP - 113
EP - 116
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 1
ER -