𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

✍ Scribed by Maria Antonietta Di Bella; Francesco Calì; Gregorio Seidita; Mario Mirisola; Angela Ragusa; Alda Ragalmuto; Ornella Galesi; Maurizio Elia; Donatella Greco; Marinella Zingale; Giovanna Gambino; Rosalba P. D'Anna; Regina Regan; Maria Carmela Carbone; Alessia Gallo; Valentino Romano

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
201 KB
Volume
141B
Category
Article
ISSN
1552-4841

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the triplicate region does not exceed 300 kb about, that is, the distance from telomere to the first normally inherited marker. In addition, gene dosage analysis performed on the derivative chromosome 21, did not reveal loss of the most telomeric protein‐encoding genes on 21p. The potential relationship between a postulated increased expression of genes on 13q34 and the complex phenotype in this trisomic patient is discussed. © 2006 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Prenatal diagnosis of partial trisomy 12
Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21)
✍ Chih-Ping Chen; Cheng-Chun Lin; Chun-Yu Chuang; Chen-Chi Lee; Wen-Lin Chen; Shea 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at

Bilateral renal agenesis and fetal ascit
Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)
✍ Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Wayse 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 3 views

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal rec

Detection of a cryptic translocation t(1
Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding
✍ de Die-Smulders, Christine E.M.; Engelen, John J.M.; Albrechts, Josefa C.M.; Ham 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 1 views

Cryptic unbalanced chromosome rearrangements in the telomeric bands of the chromosomes may constitute a significant cause of unexplained mental retardation with or without congenital anomalies. We report on a boy with a terminal deletion of the long arm of chromosome 13, combined with a partial dupl

Characterization of the breakpoints in a
Characterization of the breakpoints in a t(8;13)(p11;q12) translocation from a patient with myeloproliferative disease using fluorescence in situ hybridization
✍ Olga Chernova; Ivan Still; Matt Kalaycio; Gerald Hoeltge; John K. Cowell 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 199 KB 👁 1 views

We used fluorescence in situ hybridization to characterize the molecular position of the breakpoints in a t(8;13)(p11;q12) reciprocal translocation from a patient with an atypical myeloproliferative disorder. This structural chromosome abnormality is characteristic of this specific disease and occur