✦ LIBER ✦

Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas

✍ Scribed by Hansen, Matthew; Lucarelli, Mark J.; Whiteman, David A. H.; Mulliken, John B.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 21 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<71::aid-ajmg14>3.0.co;2-t

No coin nor oath required. For personal study only.

✦ Synopsis

We report extreme expression of Treacher

Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in the sister. The father had no signs and was not ruled out as the father by DNA fingerprinting, thus making homozygosity by descent in the severely affected son very unlikely.

📜 SIMILAR VOLUMES

Variability in a family with an insertio

Variability in a family with an insertion involving 5p

✍ Marinescu, R. Catrinel; Mamunes, Peter; Kline, Antonie D.; Schmidt, Jennifer; Ro 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 1 views

Cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and

Genotype, molecular phenotype, and cogni

Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome

✍ Kaufmann, Walter E.; Abrams, Michael T.; Chen, Wilma; Reiss, Allan L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw

Pendred syndrome: Phenotypic variability

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

✍ Masmoudi, Saber; Charfedine, Ilhem; Hmani, Mounira; Grati, M'hamed; Ghorbel, Abd 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB 👁 1 views

Correlation of linkage data with phenoty

Correlation of linkage data with phenotype in eight families with Stickler syndrome

✍ Wilkin, Douglas J.; Mortier, Geert R.; Johnson, Carey L.; Jones, Marilyn C.; De 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were simi

GermlinePTEN mutation in a family with C

GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

✍ Zori, Roberto T.; Marsh, Debbie J.; Graham, Gail E.; Marliss, Errol B.; Eng, Cha 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

## Clinical overlap between Cowden disease and Bannayan -Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with

Canadian Bardet-Biedl syndrome family re

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype

✍ Young, Terry-Lynn; Woods, Mike O.; Parfrey, Patrick S.; Green, Jane S.; O'Leary, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and sever