Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy
β Scribed by Tatsuro Ikeuchi; Ikuko Kondo; Motomichi Sasaki; Yasuhiko Kaneko; Susumu Kodama; Tsukasa Hattori
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 449 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,--13,--21+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q--syndrome.
π SIMILAR VOLUMES
By using fluorescence in situ hybridization (FISH), we demonstrate a case of monosomy 21 to result from an unbalanced translocation involving the short arm of chromosome 5 and the long arm of chromosome 21. Our case is compared to 3 similar cases of t(5p;21q) reported recently, which were also origi
## Abstract Insertional translocations (IT) are rare structural rearrangements. Offspring of IT balanced carriers are at high risk to have either pure partial trisomy or monosomy for the inserted segment as manifested by βpureβ phenotypes. We describe an IT between chromosomes 3 and 13 segregating
Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Diffe