𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization

✍ Scribed by Zenhger-Hain, Julie L. ;van Dyke, Daniel L. ;Wiktor, Anne ;Walker, Hugh ;Feldman, Gerald L.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
388 KB
Volume
47
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Partial tetrasomy with triplication of c
✍ Harrison, Karen J.; Teshima, Ikuko E.; Silver, Meredith M.; Jay, Venita; Unger, πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 1 views

We report on a newborn infant with a de novo triplication of the distal segment of 5p: 46,XX,trp(5)(pter→p14::p14→p15.33::p15.33→ qter) and multiple congenital anomalies consistent with triplication of 5p. Partial triplication was documented by fluorescence in situ hybridization with a cosmid probe

Prenatal detection of de novo duplicatio
✍ Li, Shibo; Tuck-Muller, Cathy M.; MartοΏ½nez, JosοΏ½ E.; Rowley, Ewellonda R.; Chen, πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 14 KB πŸ‘ 2 views

We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major ma

Characterization of an inversion duplica
✍ Henderson, Karen G. ;Dill, Fred J. ;Wood, Stephen πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 460 KB πŸ‘ 2 views

A de novo chromosome aberration in a woman with severe mental retardation and minor anomalies has been characterized cytogenetically. The patient's karyotype was described as 46, XX, inv dup (8)(p12 + p23.1). Previous Southern blot dosage studies with the marker locus D8S7 demonstrated that the pati

Fluorescencein situ hybridization analys
✍ Meng,, Fan Jing; Zhou, Yue; Giwercman, Aleksander; Skakkebaek, Niels E.; Van Kes πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 205 KB πŸ‘ 1 views

Carcinoma in situ (CIS) of the testis is the precursor of seminomas and non-seminomatous germ cell tumours of the adult testis. A marked cytogenetic anomaly, the isochromosome of the short arm of chromosome 12 [i(12p)], has been demonstrated in over 80 per cent of all histological varieties of testi