𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ring chromosome 18 in a fetus with only facial anomalies

✍ Scribed by Los, Frans J.; van den Berg, Cardi; Braat, Armando P.G.; Cha'ban, Firas K.; Kros, Johan M.; Opstal, Diane Van

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
491 KB
Volume
66
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a prenatally detected case of ring chromosome 18 [46,XX,r(18)1 in amniotic fluid cells of a fetus with an abnormal facial profile on ultrasound as the only malformation. The chromosome 18 origin of the ring chromosome, of a supernumerary marker chromosome in some cells, and of micronuclei was demonstrated by fluorescent in situ hybridization with a whole chromosome 18 paint (Cambio) and 18 centromere probe L1.84. DNA investigations showed deletions of 18p as well as 18q material of r( 18), which turned out to be of paternal origin. Autopsy of the fetus after termination of pregnancy at 20 weeks of gestation showed no additional malformations, in agreement with the previous ultrasound findings.

📜 SIMILAR VOLUMES

Prune-belly syndrome and other anomalies
Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lackingXIST
✍ Guillén, David R.; Lowichik, Amy; Schneider, Nancy R.; Cohen, Debra S.; Garcia, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 1 views

Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single um

Ring chromosome 4 and Wolf–Hirschhorn sy
Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies
✍ Sevim Balcı; Özlem Engiz; Dilek Aktaş; Ibrahim Vargel; M.S. Beksaç; Kristin Mras 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 1 views

## Abstract We report on a 16‐month‐old male patient with ring chromosome 4 and deletion of Wolf–Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices.