✦ LIBER ✦

Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization

✍ Scribed by Fagan, Kerry; Edwards, Matthew

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 290 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970414)69:4<352::aid-ajmg3>3.0.co;2-n

No coin nor oath required. For personal study only.

✦ Synopsis

We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identified the marker as deriving from chromosome 17. Am. J. Med. Genet. 69:352-355, 1997.

📜 SIMILAR VOLUMES

Characterization of a small supernumerar

Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization

✍ Duncan, Alessandra M. V. ;Macdonald, Athen ;Brown, Carolyn J. ;Wolff, Daynna ;Wi 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 427 KB 👁 1 views

Identification of supernumerary ring chr

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization

✍ Chen, Harold ;Tuck-Muller, Cathy M. ;Batista, Denise A. S. ;Wertelecki, Wladimir 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 498 KB 👁 1 views

Mosaic partial trisomy 17 due to a ring

Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation

✍ Morrison, P. J.; Smith, N. M.; Martin, K. E.; Young, I. D. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 1 views

We report on a 3-year-old-girl with mosaic partial trisomy 17 due to an additional ring chromosome 17 in 13% of cells analysed. This was identified by fluorescence in situ hybridisation (FISH) using a whole chromosome 17 specific paint as well as probes specific for the Smith-Magenis and Miller-Diek

Minute chromosomal rearrangements detect

Minute chromosomal rearrangements detected prenatally by fluorescence in situ hybridization

✍ Kaoru Suzumori; Mitsuyo Tanemura; Naomi Oya; Nobuhiro Suzumori; Kyoung Chang Kim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB 👁 2 views

Initial approaches to prenatal diagnosis from fetal karyotyping involved application of standard cytogenetic techniques. However, when fetal samples, such as chorionic villus cells or amniocytes are used, small chromosome rearrangements cannot be easily identified because they lack a distinct bandin

Partial trisomy 13q identified by sequen

Partial trisomy 13q identified by sequential fluorescence in situ hybridization

✍ Rao, V. V. N. Gopal ;Carpenter, Nancy J. ;Gucsavas, Muge ;Coldwell, James ;Say, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 365 KB 👁 1 views

Identification of a small supernumerary

Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies

✍ Melnyk, A. R. ;Dewald, G. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB 👁 1 views