A novel atypical 22q11.2 distal deletion in father and son
نویسندگان
چکیده
منابع مشابه
A novel atypical 22q11.2 distal deletion in father and son.
Interstitial deletions of chromosome 22q11.2 are associated with several birth defects and malformations, which include DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. These were all initially described as separate entities, but are now considered to be part of the spectrum of the same condition. The CATCH22 acronym was proposed to encompass this phenotypic variability, but ...
متن کاملELECTRONIC LETTER A novel atypical 22q11.2 distal deletion in father and son
Interstitial deletions of chromosome 22q11.2 are associated with several birth defects and malformations, which include DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. These were all initially described as separate entities, but are now considered to be part of the spectrum of the same condition. The CATCH22 acronym was proposed to encompass this phenotypic variability, but ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.10.e62