Trisomy 4q : 46, xy, -11, +der (11), t(4;11) (q27; q25) pat in a child with multiple congenital anomalies
β Scribed by S. A. Al-Awadi; E. K. Naguib; S. A. Al-Othman; T. S. Sundareshan
- Book ID
- 112833138
- Publisher
- Springer-Verlag
- Year
- 1988
- Tongue
- English
- Weight
- 335 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0019-5456
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We present a 34-year-old man with an unbalanced translocation between the long arms of chromosome 4 and chromosome 11. He had manifestations of monosomy 11(q23)--minor facial anomalies, abnormal head shape, cryptorchidism; trisomy 4(q32)--hirsutism, renal disease; and manifestations attributable to
Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)
## Abstract We report on a 13βyearβold female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c