PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 2865673

[Tetrasomy 9p].

W Foerster·M Koch·S Hansen
View original source ↗Export metadata ↓

Abstract

A newborn male with multiple malformations and an extrachromosome is presented. The cytogenetic study of peripheral blood lymphocytes revealed tetrasomy 9p: 47,XY, + t(9;9)(pter----q13::p11----pter). The C-banding pattern provided evidence for maternal origin of the extrachromosome. Tetrasomy for the short arm of chromosome 9 is a very rare condition; reports about only ten further patients have been found in the literature. The phenotypic expression resembles trisomy 9p, but tetrasomy 9p has more severe additional malformations.

Explore related subjects

Abnormalities, MultipleArmBrainChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, 6-12 and XCleft LipCleft PalateCryptorchidismHeart Defects, CongenitalHumansInfant, NewbornLegMaleCase ReportsEnglish AbstractJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

W Foerster, M Koch, S Hansen. 1985. [Tetrasomy 9p].. https://pubmed.ncbi.nlm.nih.gov/2865673/

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

KEEP EXPLORING

Related citations

PubMed1995

[Prenatal diagnosis of left cardiac abnormality].

We found out of 1500 prenatal cardiac ultrasound examinations very small left heart in 14 cases. Six of the 14 cases were hypoplastic left heart syndrome and eight functional-secondary left heart hypoplasia. The most important signs the echocardiography in cases of hypoplastic left heart are as follow: hypoplasia of mitral valve with or without measurable flow, absence of the anterograde flow through the aortic valve, retrograde flow in the isthmus. In cases of functional left heart hypoplasia the size of the left ventricle, aorta and mitral valves were under the 3rd percentile but there were measurable anterograde flow through the aorta. In eleven cases there were other malformations: hygroma colli, diaphragmatic hernia and omphalokele. The differentiation of the hypoplastic left heart from the secondary left heart hypoplasia has a great importance because of the therapic planning and prognosis.

Abnormalities, Multiple↗
PubMed1995

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.

Abnormalities, Multiple↗