Balkan Journal of Medical Genetics

CONGENITAL HYDROCEPHALUS AND HEMIVERTEBRAE ASSOCIATED WITH DE NOVO PARTIAL MONOSOMY 6q (6q25.3→qter)
Li Y, Choy K-W, Xie H-N, Chen M, He W-Y, Gong Y-F, Liu H-Y, Song Y-Q, Xian Y-X, Sun X-F, Chen X-J,
*Corresponding Author: Xin-Jie Chen, Ph.D., Key Laboratory of Reproductive Medicine of Guangdong Province, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Duobao Road 63, Guangzhou, 510150, Guangdong, People’s Republic of China. Tel: +86-20-81292292. Fax: +86-20-81292013. E-mail: lucychen23@aliyun.com
page: 77

INTRODUCTION

Isolated 6q subtelomeric deletions are relatively rare, and few correlative studies have been reported [1-4]. The most common clinical features include mental retardation, developmental delay, dysmorphic features, hypotonia, microcephaly, facial dysmorphism, seizures, cardiac defects and brain anomalies, such as abnormal corpus callosum and hydrocephalus [1,3,5]. Patients with pure 6q terminal deletions usually present multiple anomalies and seldom present less than three malformations. Hydrocephalus associated with a chromosome 6q terminal deletion has been reported in several postnatal and prenatal cases [5]. However, the relationship between the involved region and the genes associated with hydrocephalus is still not well understood. Studies on hemivertebra due to microdeletions of distal chromosomal regions of 6q are scarce. This malformation often emerges simultaneously with various anomalies of the nervous system, musculoskeletal system, genitourinary tract, cardiac system and gastrointestinal tract, but no report discussing the possible genetic etiology has been published [6-10]. Here we report on a 24-week-old fetus with congenital hydrocephalus and hemivertebrae diagnosed by prenatal ultrasonography with the molecular genetic finding of a 6q terminal deletion. The case described here is rare in that the proband only exhibited two of the deformities that have previously been reported to be associated with terminal 6q deletions [2]. We investigated the genotype-phenotype correlation and sought to identify the relevant region of the 6q terminus and the associated genes that may be responsible for these clinical features.

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