Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

A male infant was referred for cytogenetic evaluation because of dysmorphic features and developmental delay. In both lymphocytes and skin fibroblasts, a modal number of 46 chromosomes was obtained with an obvious elongation of the long arm of the X chromosome (Xq+). Studies of seven members in 3 ge...

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Bibliografiske detaljer
Main Authors: Schwartz, S, Schwartz, M F, Panny, S R, Peterson, C J, Waters, E, Cohen, M M
Format: Artigo
Sprog:Inglês
Udgivet: 1986
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684824/
https://ncbi.nlm.nih.gov/pubmed/3459356
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