Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Phenotype variant of the common duplication at 17p11.2.

not utilizable. Biopsy of the right gastrocnemius muscle revealed a chronic neurogenic pattern. Since the age of 22 years she noted impaired hearing on the right side. At the age of 26 years, hypothyroidism was diagnosed and levothyroxin prescribed. At the age of 27 years she started to take phentermine to reduce her overweight. Eight weeks later she additionally received nandrolone to compensa...

chromosome duplication (14q) and the genotype phenotype correlation

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Optic disc duplication or coloboma?

AIM To describe lesions resembling optic disc duplication and highlight their unusual visual fields. The authors also report the first case of pseudo-duplication of the optic disc with overlying retinal nerve fibre layer. METHODS Retrospective, non-comparative review of case notes. Humphrey visual fields and OCT-3 imaging were performed. RESULTS All 11 cases represented peripapillary chorio...

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de nov...