Complete trisomy 9. Two additional cases.

A Delicado; L Iñiguez; I Lopez Pajares; F Omeñaca

Home/Archive/PubMed

PubMed · 3874593

Complete trisomy 9. Two additional cases.

A Delicado·L Iñiguez·I Lopez Pajares·F Omeñaca

View original source ↗Export metadata ↓

Abstract

Two infants with complete trisomy of chromosome 9 are described. One patient, died a few minutes after birth and another survived 24 hours. The main clinical findings in this syndrome are: intrauterine growth retardation, characteristic facial dysmorphism, hypoplastic external genitalia and malformations of heart, brain and skeleton.

Explore related subjects

Abnormalities, Multiple Chromosomes, Human, 6-12 and X Face Female Fetal Growth Retardation Genitalia Humans Infant, Newborn Karyotyping Male Pregnancy Trisomy Journal Article

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

A Delicado, L Iñiguez, I Lopez Pajares, F Omeñaca. 1985. Complete trisomy 9. Two additional cases.. https://pubmed.ncbi.nlm.nih.gov/3874593/

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↗