𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of mosaicism for a del(22)(q13)

✍ Scribed by Mariluce Riegel; Alessandra Baumer; Josef Wisser; Josef Acherman; Albert Schinzel

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
85 KB
Volume
20
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.

✦ Synopsis

A case of prenatally detected mosaicism for a del(22)(q13) is reported. CVS was performed because of abnormal fetal ultrasound findings: cystic 'tumour' in the fetal neck and the upper thoracic aperture. Karyotypes from chorionic villi were suspicious of an aberration concerning the long arm of one chromosome 22. FISH analysis demonstrated mosaicism for a distal 22q deletion in fetal fibroblasts. The deletion was postnatally confirmed by FISH with a chromosome-specific 22q probe. The 'tumour' on autopsy turned out to be cystic thymic tissue. Apart from this, no other obvious fetal anomalies were found.

πŸ“œ SIMILAR VOLUMES

Prenatal diagnosis of mosaic trisomy 13:
Prenatal diagnosis of mosaic trisomy 13: a case report
✍ S. R. Eubanks; J. A. Kuller; D. Amjadi; C. M. Powell πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 106 KB πŸ‘ 2 views

While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal i

PROBABILITY TABLES FOR EXCLUSION OF MOSA
PROBABILITY TABLES FOR EXCLUSION OF MOSAICISM IN PRENATAL DIAGNOSIS
✍ BIRGIT SIKKEMA-RADDATZ; SΓ‰RGIO CASTEDO; GERARD J. TE MEERMAN πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 184 KB πŸ‘ 2 views

The decision concerning the number of metaphases that need to be analysed to detect mosaicism of a certain degree depends mainly, for the same confidence levels, on the culture method used (in situ or flask methods). Several probability tables, designed for either the in situ or the flask method, ha

Prenatal diagnosis of a recombinant chro
Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 β†’ qter
✍ M. Tchirikov; A. Merinsky; M. Strohner; M. Bonin; V. Beyer; T. Haaf; O. Bartsch πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 219 KB πŸ‘ 1 views

## Abstract Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 → qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ