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Mother to son transmission of del(1) (q42.1q42.3)
Authors:Susie Ball  Roberta A. Pagon  Michael Donlan
Affiliation:1. Children's Village/Yakima Valley Hospital, Yakima, Washington;2. Children's Hospital and Medical Center, Seattle, Washington;3. Inland Northwest Genetics Clinic, Spokane, Washington
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. © 2001 Wiley‐Liss, Inc.
Keywords:chromosome 1  chromosome deletion  familial chromosome deletion
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