PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 914283

Partial trisomy 16q-.

E Yunis·J T González·O M Torres de Caballero
View original source ↗Export metadata ↓

Abstract

A 5-month-old female was found with a 16q- trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+;16q-)(15p12;16q11). This is the first report in the literature of a liveborn with this chromosome abnormality.

Explore related subjects

Abnormalities, MultipleChromosomes, Human, 16-18FemaleHumansInfantKaryotypingTranslocation, GeneticTrisomyCase ReportsJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

E Yunis, J T González, O M Torres de Caballero. 1977-10-14. Partial trisomy 16q-.. https://doi.org/10.1007/bf00402163

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed1992

[Lissencephalia syndromes].

Lissencephaly is in most cases a genetic anomaly of the brain development with agyria and/or pachygyria. It causes severe psychomotor retardation and epilepsy, which is often resistant to therapy. Some patients with type-I lissencephaly show cranial and facial dysmorphism and a deletion of chromosome 17p13.3 (Miller-Dieker syndrome). The isolated lissencephaly sequence occurs without these features. Patients with type-II lissencephaly present additional malformations of the posterior fossa and of the eyes (Walker-Warburg syndrome) and in some cases muscular dystrophy (cerebro-oculomuscular syndrome). Lissencephaly can be suspected with a high probability by its typical EEG. It is proved by imaging techniques. Therapeutic success is limited, the life expectancy is strongly reduced.

Abnormalities, Multiple↗
PubMed1992

RAPADILINO syndrome.

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.

Abnormalities, Multiple↗
PubMed1992

Williams syndrome in adults.

There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.

Abnormalities, Multiple↗