Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.
نویسندگان
چکیده
The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).
منابع مشابه
A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.
An 8 year old girl with partial duplication of the short arm of chromosome 17 had a mosaic 46,XX,der(17)?del(17)(p12)dup(17) (p11.2p12).ish dup(17)(p11.2p13.3)(D17S 379x2, p53x2, D17S122x2, D17S29+) karyotype. The extent of mosaicism was 20% in lymphoblasts and 100% in fibroblasts. Fluorescence in situ hybridisation (FISH) proved invaluable in defining the abnormality precisely. The cytogenetic...
متن کاملLETTER TO JMG 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?
Multiple patients with rearrangements of the short arm of 8p23.1 have been reported, including inverted and tandem duplications of 8p, deletions of 8p23, pericentric inversions (p23q22), and isolated duplications of 8p23. The clinical significance of duplication of 8p23.1 remains controversial. Krasikov et al, Williams et al, Barber et al, and O’Malley and Storto together have reported 29 patie...
متن کاملInherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family.
A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q13.2-q21.2). The karyotyping interpretation was further confirmed by fluorescence in situ hybridization studies in which a double gene dosage of the X-inactivation-specific transcript (gene locus on Xq13.2) and a whole c...
متن کامل8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?
Multiple patients with rearrangements of the short arm of 8p23.1 have been reported, including inverted and tandem duplications of 8p, deletions of 8p23, pericentric inversions (p23q22), and isolated duplications of 8p23. The clinical significance of duplication of 8p23.1 remains controversial. Krasikov et al, Williams et al, Barber et al, and O’Malley and Storto together have reported 29 patie...
متن کاملGastrointestinal Duplicators
rntro Cystom. (lntestin;.il Duplications and , or intes-, SUtinal Cysts). These are . congenital cysts who contain wall has a same histologie pattern as intestinal wall, and they are common in ab- dominal cavity and 70% of them are located in ileocecal region. Twenty percent (20%)oi these cysts have a entrance to intestinal lumen and the rest of them are closed cysts. With duplications in thor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 35 7 شماره
صفحات -
تاریخ انتشار 1998