Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature
β Scribed by Parmar, Ramesh C. ;Muranjan, Mamta N. ;Kotvaliwale, S. ;Sharma, Seema ;Bharucha, B.A.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 75 KB
- Volume
- 117A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We describe a patient with multiple congenital abnormalities exhibiting 2β5 supernumerary chromosomes per cells. A variety of FISH techniques were used to demonstrate that the markers are probably rings, lack detectable telomere sequences, and originate from different nonβacrocentric ch
W e report on a 30-year-old woman with de novo ring chromosome 12 mosaicism, 46-, r(l2)(pl3.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, microcephaly, and mental deficiency, she had a broad nasal brid
Recurrence of fetal cystic hygroma in subsequent pregnancies is extremely rare. A review of the literature to date revealed only two other reports of recurrence with normal fetal karyotypes documented in at least two of the affected pregnancies. At 11 weeks' gestation, the fetus of a 19-year-old gra