Kleeblattschädel anomaly and partial trisomy for chromosome 13 (47,XY,+der(13),t(3,13)(q24; q14).
نویسندگان
چکیده
This paper reports a case of partial trisomy involving the proximal segment of the long arm of chromosome 13. Kleeblattschädel anomaly was one of the many anomalies found in conjunction with this syndrome. The cytogenetic classification of the extra partial chromosome was based on trypsin-giemsa banding patterns and a paternal translocation involving chromosomes 3 and 13.
منابع مشابه
Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and ...
متن کاملMolecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
A female infant with multiple malformations and mental retardation was noted to have a rare de novo chromosome abnormality involving mosaicism with two cell lines, one with a ring chromosome 13, and the other with partial trisomy 13 owing to a complex rearrangement. Cytogenetic examination excluded the presence of a t(13q;13q) cell line and showed a cell line with a marker chromosome containing...
متن کاملTrisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes
We describe a trisomy 21 with a small supernumerary marker chromosome (sSMC) derived from chromosomes 13/21 and 18 in which the karyotype was 48,XY,+der(13 or 21)t(13 or 21;18)(13 or 21pter→13q11 or 21q11.1::18p 11.21→18pter),+21. Of the 35 case reports in the literature for a karyotype 48,XN,+21,+mar, in only 12 was the origin of the sSMC determined by fluorescence in situ hybridization (FISH)...
متن کاملDuplication of the der(13)t(12;13)(p13;q14) in chronic myelomonocytic leukemia.
A case of chronic myelomonocytic leukemia with a reciprocal translocation (12;13)(p13;q14) and other numerical and structural abnormalities is described. Most of the metaphases examined showed duplication of the der(13)t(12;13), leading to trisomy of the translocated segment of chromosome 12. Using fluorescence in situ hybridization we observed that the breakpoint on chromosome 13 is centromeri...
متن کاملSevere mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.
A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.
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:
- Clinical genetics
دوره 17 6 شماره
صفحات -
تاریخ انتشار 1980