𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization

✍ Scribed by Laleye, Anatole ;Delneste, Daniele ;Pradier, Olivier ;Hans, Christine ;Darboux, Rapha�l ;Ogur, Gonul

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
219 KB
Volume
110
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Frequent deletions of 6q23–24 in B-cell
Frequent deletions of 6q23–24 in B-cell non-Hodgkin's lymphomas detected by fluorescence in situ hybridization
✍ Yanming Zhang; Klaus Weber-Matthiesen; Reiner Siebert; Peter Matthiesen; Brigitt 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 2 views

Deletions of the long arm of chromosome 6 (6q) are among the most frequent chromosome aberrations in malignant lymphomas and often occur as secondary changes in addition to typical translocations, such as t(14;18). Using fluorescence in situ hybridization (FISH) with two YAC probes hybridizing to 6q

Interstitial deletion of bands 11q21?22.
Interstitial deletion of bands 11q21?22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes
✍ Horelli-Kuitunen, Nina; Gahmberg, Nina; Eeva, Mervi; Palotie, Aarno; J�rvel�, Ir 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 1 views

A 3-year-old girl has a de novo deletion of 11q21-22.3. The patient was studied because of minor anomalies, disproportionate short stature, and developmental delay. The deletion was first detected by conventional cytogenetic analysis and defined further by using chromosome 11-specific YAC clones by

Interstitial deletion of chromosome 1q [
Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III
✍ Takano, Takako; Yamanouchi, Yasuko; Mori, Yosuke; Kudo, Satoshi; Nakayama, Toyoa 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB 👁 1 views

We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and

Deletion of small nuclear ribonucleoprot
Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: Two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q
✍ Ishikawa, Tatsuya; Kibe, Tetsuya; Wada, Yoshiro 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de

Reciprocal translocation t(1;15)(p36.2;p
Reciprocal translocation t(1;15)(p36.2;p11.2): Confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p)
✍ Barbi, Gotthold ;Kennerknecht, Ingo ;Klett, Christine 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 411 KB

A newborn girl with generalized muscular hypotonia and minor anomalies was referred for chromosome analysis. Cytogenetic investigation showed a satellite and an Agpositive NOR on the distal short arm of one chromosome 1, thus indicating an unbalanced translocation involving the short arm of an acroc

PRENATAL AND POSTNATAL INVESTIGATION OF
PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION
✍ S. L. VAN ZELDEREN-BHOLA; E. J. BRESLAU-SIDERIUS; G. C. BEVERSTOCK; I. STOLTE-DI 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 415 KB 👁 3 views

We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in