Trisomy for the long arm of the chromosome 18 due tode novo18/21 translocation
โ Scribed by Junji Kameyama; Masato Tsurusawa; Hiroyuki Nakano; Sumita Shimizu; Rokuro Okuda; Masuji Morita; Tatsuo Abe
- Publisher
- Nature Publishing Group
- Year
- 1977
- Tongue
- English
- Weight
- 760 KB
- Volume
- 22
- Category
- Article
- ISSN
- 1435-232X
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A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the l
A new case of partial trisomy for the long arm of chromosome 1 was observed in a newborn female, who died at age 26 days. The father was a proven carrier of a balanced translocation involving chromosomes 1 and 10.
Trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of t