✦ LIBER ✦

Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p

✍ Scribed by Meschede, Dieter; Exeler, Rita; Wittwer, B�rbel; Horst, J�rgen

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 27 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981228)80:5<443::aid-ajmg2>3.0.co;2-y

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a male child with craniofacial anomalies, postnatal onset growth retardation, microcephaly, multiple minor anomalies, hearing loss, and moderate delay of mental and statomotor development. He carries a previously undescribed tandem translocation between the long arm of chromosome 14 and the short arm of chromosome 21 that arose de novo. As proven by fluorescence in situ hybridization a microdeletion not detectable with high-resolution G-banding occured in 14q32.3, the terminal band on the long arm of chromosome 14. The resulting phenotype includes most abnormalities encountered in patients with terminal 14q32.3 deletions but in addition includes some characteristics of the ring chromosome 14 syndrome.

📜 SIMILAR VOLUMES

Pseudoachondroplasia with de novo deleti

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]

✍ Ikegawa, Shiro; Ohashi, Hirofumi; Hosoda, Fumie; Fukushima, Yoshimitsu; Ohki, Mi 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones. Recently, mutation of cartilage oligomeric matrix

Characterization of a de novo unbalanced

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

✍ Engelen, John J.M.; Loots, Wil J.G.; Albrechts, Jozefa C.M.; Plomp, Astrid S.; v 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

We report on a patient with a de novo translocation between the long arms of chromosomes 14 and 18. The translocation was studied using microdissection in combination with fluorescence in situ hybridization (micro-FISH). Five copies of the chromosomes involved in the translocation were isolated by m

De novo deletion 12q: Report of a patien

De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen

21 Q-In-Law

✍ David, Peter 📂 Fiction 📅 1991 🏛 Simon and Schuster;Pocket Books 🌐 en-GB ⚖ 120 KB 👁 2 views

SUMMARY: When two powerful rival families of the spacefaring merchant race called the Tizarin are to be joined through marriage, theU.S.S. Enterprise™ is chosen as the site for the wedding. Though Captain Picard is pleased by the happy duty, his pleasure is cut short by the arrival of the Federati

Sublocalization of the Papillon-Lefevre

Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21

✍ Hart, Thomas C.; Bowden, Donald W.; Ghaffar, Khaled A.; Wang, Wei; Cutler, Chris 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB

Papillon-Lefevre syndrome (PLS) is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe earlyonset periodontitis. The presence of severe periodontitis distinguishes PLS from other palmoplantar keratodermas. As part of our efforts t

Monosomy 18q syndrome and atypical Rett

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)

✍ Gustavsson, Peter; Kimber, Eva; Wahlstr�m, Jan; Anner�n, G�ran 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin