Abstract:
:Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arteriosus, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examination, consistent with DiGeorge syndrome. Evaluation of the asymptomatic mother of these two patients revealed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22q11. These findings provide further evidence that some cases of complete or partial DiGeorge syndrome are associated with monosomy of the proximal long arm of chromosome 22, and they may explain many, if not all, familial cases of the syndrome.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Greenberg F,Crowder WE,Paschall V,Colon-Linares J,Lubianski B,Ledbetter DHdoi
10.1007/BF00291554subject
Has Abstractpub_date
1984-01-01 00:00:00pages
317-9issue
4eissn
0340-6717issn
1432-1203journal_volume
65pub_type
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