A new case of trisomy 10p has been identified by means of the GTG-banding technique. The patient is a female child carrying a sporadic translocation, t(10;13)(p11;p11), and affected by microsomatia and microcephaly with facial dysmorphia, retarded growth, weight gain, and psychomotor development, an
Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship
β Scribed by Elke Back; W. Vogel; Clara Hertel; L. Schuchmann
- Book ID
- 104700759
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 258 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A family is reported with a segregating t(5;10)(p15;p11) translocation resulting in a child carrying trisomy 10p. The clinical findings of the patient are compared with trisomy 10p and the Cri-du-Chat syndrome.
π SIMILAR VOLUMES
We present a dup (lop) due to a t(10;14) (pll;pl2)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 D ; 15 Q ) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal peric
A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity level
We report on a case of dup(l6p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16~13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3: 1 in half of the cases, but these observations might be due to biases.