When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication.
نویسندگان
چکیده
Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q21.33 duplication causing prenatal and postnatal growth restriction with feeding refusal and mild facial dysmorphisms, prenatally diagnosed by single-nucleotide polymorphism array analysis. Hypothesis of the possible pathogenic mechanisms are discussed.
منابع مشابه
When Feeding Difficulties Are due to Genetics
Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q21.33 duplication causing prenatal and postnatal growth restriction with feeding refusal and mild facial dysmorphisms, prenatally diagnosed by singl...
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عنوان ژورنال:
- Journal of investigative medicine high impact case reports
دوره 3 1 شماره
صفحات -
تاریخ انتشار 2015