Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome.
نویسندگان
چکیده
A reciprocal translocation is described, t(4;21)(q27;p11), which occurs in a balanced carrier mother and her Down's syndrome child, 47,XX,t(4q-;21p+),+21. A review is presented of Down's syndrome associated with reciprocal translations involving chromosome No. 21.
منابع مشابه
Down's syndrome with a familial D/D reciprocal translocation and a G/G chromosome.
The presence of a translocation between two chromosomes in the I3-I5 (D) group does not usually give rise to any phenotypical abnormality and may be relatively common in the population (Hamerton, Giannelli, and Carter, I963). Such translocations have, however, been reported in a patient with XXY Klinefelter's syndrome (Lejeune, Turpin, and DeCourt, i960), and Hamerton et al. (I963) describe a f...
متن کاملRECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
متن کاملPartial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3).
Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific...
متن کاملBalanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...
متن کاملDown's syndrome and deletion of short arms of a G chromosome.
A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that...
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 13 4 شماره
صفحات -
تاریخ انتشار 1976