An Emerging 1q21.1 Deletion-Associated Neurodevelopmental Phenotype

被引：18

作者：

Basel-Vanagaite, Lina ^{[1
,3
]}

Goldberg-Stern, Hadassa ^{[2
,3
]}

Mimouni-Bloch, Aviva ^{[3
,4
]}

Shkalim, Vered ^{[1
,3
]}

Boehm, Detlef ^{[5
]}

Kohlhase, Juergen ^{[5
]}

机构：

[1] Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49202 Petah Tiqwa, Israel

[2] Schneider Childrens Med Ctr Israel, Epilepsy Ctr, IL-49202 Petah Tiqwa, Israel

[3] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[4] Loewenstein Hosp & Rehabil Ctr, Pediat Neurol & Dev Unit, Raanana, Israel

[5] Ctr Human Genet, Freiburg, Germany

来源：

JOURNAL OF CHILD NEUROLOGY | 2011年 / 26卷 / 01期

关键词：

1q211; microdeletion; epilepsy; drop attacks; neurodevelopmental; chromosome; comparative genomic hybridization; CHROMOSOME; 1Q21.1; RISK;

D O I：

10.1177/0883073810377658

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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).

引用

页码：113 / 116

页数：4

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