A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).
نویسندگان
چکیده
We present the first case of a de novo translocation resulting in dup(3p). Giemsa banding studies tentatively identified the source of the extra genetic material as 3p. Clinical findings were compatible with those previously reported in dup(3p) patients, further defining this cytogenetic anomaly as a distinct, clinically identifiable syndrome.
منابع مشابه
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The f...
متن کاملA case of partial trisomy 3p syndrome with rare clinical manifestations
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred t...
متن کاملElectronic letter Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH
EDITOR—In the October 2000 issue of the journal, five new cases of unbalanced translocations with partial monosomy 4p and partial trisomy 8p were described by Wieczorek et al and the authors concluded that de novo translocations causing Wolf-Hirschhorn syndrome (WHS) are more frequent than previously estimated. In particular, unbalanced de novo translocations involving the short arms of chromos...
متن کاملTwo further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.
EDITOR—In the October 2000 issue of the journal, five new cases of unbalanced translocations with partial monosomy 4p and partial trisomy 8p were described by Wieczorek et al and the authors concluded that de novo translocations causing Wolf-Hirschhorn syndrome (WHS) are more frequent than previously estimated. In particular, unbalanced de novo translocations involving the short arms of chromos...
متن کاملThe clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
Trisomy 7q or 7q duplication has been described with specific craniofacial dysmorphic features and clinical manifestations, since the chromosomal abnormality was first described by Vogel et al. in 1973 1, 2) . But, trisomy 7p syndrome rarely originates de novo; it usually results from a parental balanced translocation, which alters the phenotype attributable to trisomy7q. Here we report on two ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Journal of medical genetics
دوره 24 3 شماره
صفحات -
تاریخ انتشار 1987