A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

• Main Authors: Anna Zlotina (Author), Olesia Melnik (Author), Yulia Fomicheva (Author), Rostislav Skitchenko (Author), Alexey Sergushichev (Author), Elena Shagimardanova (Author), Oleg Gusev (Author), Guzel Gazizova (Author), Tatiana Loevets (Author), Tatiana Vershinina (Author), Ivan Kozyrev (Author), Mikhail Gordeev (Author), Elena Vasichkina (Author), Tatiana Pervunina (Author), Anna Kostareva (Author)
• Format: Book
• Published: BMC, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large fami...