Ring Chromosome 18: A Case Report

Authors

  • fahimeh Hassanzadeh Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Shermineh Heydari Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Abstract:

Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformations, hypotonia and other skeletal abnormalities. Here we report a 2.5 years old patient with a cleft lip, club foot, mental retardation and cryptorchidism. Chromosomal analysis on the basis of G-banding technique was performed following patient referral to the cytogenetic laboratory. Chromosomal investigation appeared as 46, XY, r(18) (p11.32 q21.32). According to the clinical features of such patients, chromosome investigation is strongly recommended.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report

Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...

full text

Epilepsy and ring chromosome 20: case report.

We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are bra...

full text

Ring Chromosome 15 Syndrome: Case Report and Literature Review

Objective: This report aimed to add our knowledge on the clinical features, diagnosis and management of ring chromosome 15 syndrome. Methods: Case report and literatures review. Results: A 4.5-year-old girl was admitted to our unit because of short stature. She was 86 cm in height and 9 kg in weight. Physical examination showed sparse temporal hair, right simian crease, fifth finger clinodactyl...

full text

Ring chromosome 18 in a patient with multiple anomalies.

Ring chromosomes, long of interest in cytogenetics, have been intensively studied in corn and Drosophila (McClintock, 1932, 1938; Morgan, 1933; Battacharya, 1950) and also described in Crepis, Tulipa, Tradescantia, and other species. In the past few years, a number of reports of ring chromosomes in man have appeared (Table I). We recently encountered a mentally retarded patient with multiple co...

full text

a case of autism with ring chromosome 14.

autism is a complex neuropsychiatric disorder that manifests in early childhood. although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. the main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.we e...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 3  issue None

pages  287- 289

publication date 2014-09

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023