✦ LIBER ✦

Clinical and molecular studies of brachydactyly type D

✍ Scribed by Robin, Nathaniel H.; Hurvitz, Jennifer; Warman, Matthew L.; Morrison, Stuart

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 51 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990806)85:4<413::aid-ajmg20>3.0.co;2-c

No coin nor oath required. For personal study only.

✦ Synopsis

We report on the clinical manifestations in six affected individuals from a fourgeneration family that segregates brachydactyly type D (BDD). All affected individuals have either bilateral and symmetric or unilateral first distal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some affected individuals also have a more generalized involvement of the apical skeleton. However, other than first distal phalangeal hypoplasia, there is no consistent pattern of associated skeletal involvement. Linkage analyses were preformed between the BDD phenotype in this family and six loci known to contain genes involved in apical skeletal patterning. No statistically significant linkage was detected. Am. J.

📜 SIMILAR VOLUMES

WHIM syndrome, an autosomal dominant dis

WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies

✍ Gorlin, Robert J.; Gelb, Bruce; Diaz, George A.; Lofsness, Karen G.; Pittelkow, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. The latter refers to the retention of white cells in the marrow, which becomes hypercellular. We have found approximately 20 examples of WHIM syndrome in the literature under various designations; the first examp

Molecular and clinical correlation study

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

✍ Wang, Michael S.; Schinzel, Albert; Kotzot, Dieter; Balmer, Damina; Casey, Robin 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 2 views

## Williams -Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investiga

Clinical and molecular analysis in Joube

Clinical and molecular analysis in Joubert syndrome

✍ Pellegrino, Joan E.; Lensch, M. William; Muenke, Maxmilian; Chance, Phillip F. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome

Molecular studies of translocations and

Molecular studies of translocations and trisomy involving chromosome 13

✍ Robinson, W. P.; Bernasconi, F.; Dutly, F.; Lefort, G.; Romain, D. R.; Binkert, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB

Twenty-four cases of trisomy 13 and one case with disomy 13, but a de novo dic ( 13,131 ( ~1 2 ~1 2 ) chromosome, were examined with molecular markers to determine the origin of the extra (or rearranged) chromosome. Twenty-one of 23 informative patients were consistent with a maternal origin of the

Comparison of clinical-radiological and

Comparison of clinical-radiological and molecular findings in hypochondroplasia

✍ Prinster, Chiara; Carrera, Paola; Maschio, Maurizia Del; Weber, Giovanna; Maghni 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FG

Methylenetetrahydrofolate reductase defi

Methylenetetrahydrofolate reductase deficiency in four siblings: A clinical, biochemical, and molecular study of the family

✍ Tonetti, Carole; Burtscher, Alain; Bories, Dominique; Tulliez, Michel; Zittoun, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB

A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso