Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases
✍ Scribed by Daniela Giardino; Emanuele Valtorta; Gabriella De Canal; Cecilia Corti; Chiara Valtorta; Palma Finelli; Concetta Vardè; Maria Iandolo; Cristiana Marchese; Lidia Larizza
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 106 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract We report on the prenatal diagnosis of a familial fra10(q23)/del(10)(q23) detected after cellular cultures in non‐folic deprived medium. © 2005 Wiley‐Liss, Inc.
An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a bal
The fetal cerebellar structure, size and consistency are looked at in every system survey. Among the acquired cerebellar events that might change the cerebellar consistency are haemorrhage, infections in utero and neoplasia. Additional fetal malformations, if present, assist in making the final diag
A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents wi
Intracranial tumours, often presenting with progressive hydrocephalus, are rare congenital diseases accounting for 0.5-1.5 per cent of all cases of brain tumours diagnosed during childhood. The differential diagnosis includes vascular malformations, infarctions, and haemorrhages. Sonographic signs s