Terminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these anomalies are not well defined. Identification of these ocular anomalies can be central to providing diagnoses and facilitating optimal individual patient management. We report a child with a 14q32.31 terminal deletion and ring chromosome ...

Gastrointestinal Duplicators

rntro Cystom. (lntestin;.il Duplications and , or intes-, SUtinal Cysts). These are . congenital cysts who contain  wall has a same histologie pattern as intestinal wall, and they are common in ab- dominal cavity and 70% of them are located in ileocecal region. Twenty percent (20%)oi these cysts have a entrance to intestinal lumen and the rest of them are closed cysts. With duplications in thor...

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome as...

Insertion/deletion polymorphism of angiotensin-converting enzyme and chronic obstructive pulmonary disease: A case-control study on north Indian population

This research aimed to explore the ACE (insertion/deletion) gene association as key factor for chronic obstructive pulmonary disease (COPD) development in north Indian population. A total of 200 clinically diagnosed patients with COPD were selected against 200 healthy individuals. Genetic variations of ACE (insertion/deletion) were evaluated by using polymerase chain reaction ...