Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation

• প্রধান লেখক: Pen-Hua Su (Author), Jia-Yuh Chen (Author), Suh-Jen Chen (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Elsevier, 2011-10-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13...