Key result
Extra small metacentric chromosome linked to malformations, developmental delay, and abnormal subcortical EEG activity.
Why the study?
A boy with multiple anomalies, unusual dermatoglyphics, and an extra metacentric chromosome was reported with similar clinical and cytological findings to a previously described case.
Case Report (n=1)
Describes a rare genetic case of an extra small metacentric autosome associated with multiple malformations.
Answers are grounded in this paper and cite their sources.
May prompt genetic evaluation in syndromic intellectual disability; extends reported phenotypes of small supernumerary autosomes.
Mukherjee et al (1968) described a boy with multiple anomalies, unusual dermatoglyphics, and an extra metacentric chromosome.We report here a patient with very similar clinical, dermatoglyphic, and cytological findings.11 years (Therman-Merrill test).Results of routine examination of the blood and urine were within the limits of normal.Electrocardiogram and chest x-ray were normal.An intravenous pyelo- gram was normal.The electroencephalogram showed generalized abnormal subcortical activity especially in the parietal and occipital regions.The mother and father were 32 and 46 years of age respectively at the time of birth of the propositus.At
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Armendares et al. (1971) conducted a case report in Mental retardation and multiple malformations (n=1). Extra small metacentric autosome was evaluated on Clinical, dermatoglyphic, and cytological findings. A boy with mental retardation and multiple malformations was found to have an extra small metacentric chromosome, presenting with abnormal subcortical EEG activity but otherwise normal routine tests.
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