Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)
โ Scribed by Torisu, Hiroyuki ;Yamamoto, Toshiyuki ;Fujiwaki, Takehisa ;Kadota, Mitsutaka ;Oshimura, Mitsuo ;Kurosawa, Kenji ;Akaboshi, Shinjiro ;Oka, Akira
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 151 KB
- Volume
- 131A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract A girl with psychomotor retardation and a pattern of minor anomalies was found to have a slightly enlarged short arm of chromosome 18 by conventional GTGโbanded chromosome examination. The 18pโ+โchromosome has also been found in the father. FISH studies using chromosome 18โand chromosom
We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at
## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr