𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome

✍ Scribed by Preus, Marilyn ;Vekemans, Michel ;Kaplan, Paige ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
552 KB
Volume
23
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his phenotype resembled that of a patient with a duplication-deficiency of chromosome 3. This diagnosis was confirmed using fibroblasts grown from frozen cells, and his mother was shown to carry an inversion of chromosome 3 in her peripheral blood leukocytes.

His findings are compared to those of another patient with the C trigonocephaly syndrome with normal chromosomes and to others from the literature. At least one other patient from the literature has a phenotype compatible with "3q duplication syndrome. " Key words: duplication deficiency of chromosome 3, C (trigonocephaly) syndrome

📜 SIMILAR VOLUMES

A patient with interstitial deletion of
A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype
✍ Wieczorek, Dagmar; Bolt, Jan; Schwechheimer, Karl; Gillessen-Kaesbach, Gabriele 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 3 views

We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplas

Breakpoint mapping in a case of mosaicis
Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo-telomere formation in stabilizing the deleted chromosome
✍ Leslie D. Kulikowski; Laurie A. Christ; Sintia I. Nogueira; Decio Brunoni; Stuar 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 3 views

## Abstract We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high‐resolution GTG banding and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromo

Wisconsin syndrome in a patient with int
Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: Further delineation of the phenotype
✍ Ko, Wai-tai ;Lam, Wai-fan ;Lo, Fai-man ;Chan, Wing-kwong ;Lam, Tak-sum 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB 👁 3 views

## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on