Ring chromosome 15: expanding the phenotype. 2013

M M Eid, and H T El-Bassyouni, and O M Eid, and S A Hamad, and A Elgerzawy, and M S Zaki, and M El-Ruby
Human Cytogenetics Department, National Research Centre, Egypt.

Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the literature to date. We report the clinical and cytogenetic evaluation of a patient with ring chromosome 15. Diagnostic tests including echocardiography, abdominal ultrasound, brain computerized tomography (CT), magnetic resonance imaging (MRI) and electroencephalogram (EEG) were done. Clinical examination of the patient revealed the characteristic features of ring chromosome 15, such as growth retardation, hypertelorism, frontal bossing, a highly arched palate, small hands and feet and café-au-lait spots. In addition, the patient presented with a mild intellectual disability, a congenital atrial septal heart defect, and abnormal EEG records. We also report 2 novel findings, which to our knowledge; have not been reported before in ring chromosome 15 patients: large areas of hyperpigmentation on the front of both legs and feet and hypogenesis of the corpus callosum. Cytogenetic studies using both conventional G-banding and fluorescence in situ hybridization (FISH) with a Sub Tel 15q probe confirmed the diagnosis of ring chromosome 15.

UI MeSH Term Description Entries
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002884 Chromosomes, Human, Pair 15 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 15
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012303 Ring Chromosomes Aberrant chromosomes with no ends, i.e., circular. Chromosomes, Ring,Chromosome, Ring,Ring Chromosome
D017495 Hyperpigmentation Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance. Hypermelanosis,Hypermelanoses
D061085 Agenesis of Corpus Callosum Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity. Absence of Corpus Callosum,Corpus Callosum Agenesis,Corpus Callosum Dysgenesis,Corpus Callosum Hypogenesis,Corpus Callosum Malformation,Corpus Callosum, Agenesis Of,Ageneses, Corpus Callosum,Agenesis, Corpus Callosum,Corpus Callosum Absence,Corpus Callosum Absences,Corpus Callosum Ageneses,Corpus Callosum Dysgeneses,Corpus Callosum Hypogeneses,Dysgeneses, Corpus Callosum,Dysgenesis, Corpus Callosum,Hypogeneses, Corpus Callosum,Hypogenesis, Corpus Callosum

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