Child with De Novo t(1;6)(p22.1;p22.1) Translocation and Features of Ectodermal Dysplasia with Hypodontia and Developmental Delay

    February 2003 in “ American Journal of Medical Genetics Part A ”
    Alexander Asamoah, Amy Decker, Anne E. Wiktor, Daniel L. Van Dyke
    TLDR A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
    The document reported on a 6.5-year-old girl with a balanced translocation between chromosomes 1 and 6, presenting features of ectodermal dysplasia, including hypodontia, developmental delay, and other physical anomalies such as microcephaly, sparse eyelashes, and poor hair and nail growth. Despite normal thyroid and mineral levels, the child's karyotype was 46,XX,t(1;6)(p22.1;p22.2), with normal parental karyotypes, suggesting a possible submicroscopic genetic disruption. This case was unique as there were no previous reports of ectodermal dysplasia linked to this specific chromosomal rearrangement.
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