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
”
Studysummary This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
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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.
