Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects
β Scribed by Yi, Zhou; Yingjun, Xie; Yongzhen, Chen; Liangying, Zhong; Meijiao, Shang; Baojiang, Chen
- Book ID
- 121707843
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 621 KB
- Volume
- 533
- Category
- Article
- ISSN
- 0378-1119
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The pre-and postnatal findings of a fetus with a de novo del(l3)(pter+q21:) and an occipital encephalocoele are described. Maternal serum alpha-fetoprotein (AFP) screening at 19 weeks' gestation demonstrated a high level of 2.5 multiples of the median (MOM) and ultrasonography at 27 weeks' gestation
We report the prenatal diagnosis of partial trisomy 3p(3p23<pter) and monosomy 7q(7q36<qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine
The prenatal and postnatal findings of a fetus with partial deletion of 3p25+pter and duplication of 2p25.3-ipter are described. The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and cryptorchidism. All of these a