Načítá se...

De novo interstitial deletion del(1)(p21p32).

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Bene, M, Duca-Marinescu, A, Ioan, D, Maximilian, C
Médium: Artigo
Jazyk:Inglês
Vydáno: 1979
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012682/
https://ncbi.nlm.nih.gov/pubmed/490590
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!