Abstract
Familial transmission of cytogenetically visible autosome deletions is rare in humans. We describe here a case of mother to son transmission of an interstitial deletion of the distal long arm of chromosome one, breakpoints q42.1q42.3. This is the smallest described deletion of this region to date.
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Behavioral Symptoms
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Child
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Chromosome Aberrations / genetics
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Chromosome Deletion*
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Chromosome Disorders
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Chromosomes, Human, Pair 1 / genetics*
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Craniofacial Abnormalities / genetics
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Cytogenetic Analysis
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Family Health
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Female
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Humans
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Infectious Disease Transmission, Vertical
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Male
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Mothers
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Phenotype