Abnormality of chromosome 16 and its phenotypic expression

Golden, Nancy L.; Bilenker, Robert M.; Johnson, Walter; Tischfield, Jay A.

doi:10.1111/j.1399-0004.1981.tb00665.x

Cited by 19 publications

(3 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…They could not detect any deletion of material from, or translocation with, any other chromosome. There are similarities between 111.7 and the case of Golden et al (1981), though the present case is less severely affected. It is interesting to speculate that the ins(l6)(pll.2) seen in 111.7 differs from that of his father (11.4) in having an additional undetected lesion of 16p, possibly the duplication of an extremely small segment of 16p at the site of the insertion, thus producing a phenotype resembling partial trisomy 16p.…”

Section: Discussionsupporting

confidence: 62%

Myelodysplastic syndrome in a kindred with ins(16) (p11.2)

et al. 1988

View full text Add to dashboard Cite

A constitutional karyotypic abnormality, ins( 16)(pi 1.2). is described in a case of myelodysplastic syndrome (MDS). The source of material for this insertion could not be established, but did not arise from either a balanced deletion or translocation, and did not consist of constitutive heterochromatin as defined by C-banding. The same lesion was found in both sisters, both nephews and four of the five great-nephews. Of these. all were phenotypically and haematologically normal, with the exception of a great-nephew who at the age of 6 exhibits features compatible with partial trisomy 16p. The relationship of the karyotypic abnormality to the MDS and partial trisorny 16p in this family is discussed.

show abstract

Section: Discussionsupporting

confidence: 62%

Myelodysplastic syndrome in a kindred with ins(16) (p11.2)

et al. 1988

View full text Add to dashboard Cite

show abstract

“…Stern et al 1975; Mori et al 1987; Chen et al 1999, and Kupchik et al 2005 each reported a child with a duplication of 16p combined with other duplications or deletions; these are not included in this review. Golden et al 1981 published a propositus having an “extra genetic material” present on the short arm of chromosome 16 that was, however, not identified. Movahhedian et al 1998 reported on a child with pulmonary hypertension and duplication of 16p which had not been included in Kokalj‐Vokac's review.…”

Section: Discussionmentioning

confidence: 99%

Platelet adhesion studies on nanostructured poly(lactic‐co‐glycolic‐acid)–carbon nanotube composite

Koh

Rodríguez

Zhou

2007

J Biomedical Materials Res

View full text Add to dashboard Cite

Design of blood-compatible surfaces is required to minimize platelet-surface interactions and increase the thromboresistance of foreign surfaces. Poly(lactic-co-glycolic-acid)-carbon nanotube (PLGA-CNT) composite is studied as a building material to fabricate artificial blood prostheses. This nanocomposite-based biomaterial is prepared by an electrostatic Layer-by-Layer (LbL) deposition technique, in which layers of CNTs are adsorbed onto a PLGA film. Before incubation in nonstimulated platelet-rich plasma (PRP) for platelet studies, fibrinogen is immobilized on PLGA-CNT composite. Interactions between the plasma proteins, e.g. fibrinogen and PRP, are investigated on the prepared PLGA-CNT composite. Contact angle measurements on the PLGA-CNT composite displayed a good resistance of platelets adhesion on a hydrophilic surface with an angle of 64.94 degrees as compared to pristine PLGA control with an angle of 93.43 degrees . A significant reduction of adhesion is observed on the PLGA-CNT composite, as well as the absence of platelet activation. On the contrary, both platelet adhesion and activation are observed on control samples. We inferred this suppression in secretion of granule contents in the platelet by the presence of the CNTs that resulted in the absence of platelet activation and its subsequent inhibition in the release of adhesive membrane receptors on the PLGA-CNT composite.

show abstract

“…Golden et al [1981] published a propositus having an ''extra genetic material'' present on the short arm of chromosome 16 that was, however, not identified. Movahhedian et al [1998] reported on a child with pulmonary hypertension and duplication of 16p which had not been included in Kokalj-Vokac's review.…”

Section: Discussionmentioning

confidence: 94%

Long‐term follow‐up of a 26‐year‐old male with duplication of 16p: Clinical report and review

Rochat

Riegel

Schinzel

2007

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report on a 26-year-old male with profound psychomotor retardation and a pattern of dysmorphic features and malformations characteristic for duplication of the short arm of chromosome 16. He has an elongated face, sparse hair, upslanting palpebral fissures, anteverted nostrils, hypoplastic thumbs on both hands, and dislocation of several joints. His chromosome aberration was diagnosed at birth and was due to an unbalanced segregation of a maternal translocation t(2;16)(q36;p11). At 26 years of age he is, to the best of our knowledge, the oldest patient with duplication of 16p reported to date. We present a long-term observation of growth, psychomotor development, dysmorphic features and evolution of his skeletal and joint defects as well as a review of the literature.

show abstract

Abnormality of chromosome 16 and its phenotypic expression

Cited by 19 publications

References 8 publications

Myelodysplastic syndrome in a kindred with ins(16) (p11.2)

Myelodysplastic syndrome in a kindred with ins(16) (p11.2)

Platelet adhesion studies on nanostructured poly(lactic‐co‐glycolic‐acid)–carbon nanotube composite

Long‐term follow‐up of a 26‐year‐old male with duplication of 16p: Clinical report and review

Contact Info

Product

Resources

About