Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
نویسندگان
چکیده
A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed.
منابع مشابه
Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 32 4 شماره
صفحات -
تاریخ انتشار 1995