Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund

Autor:	W. Scholz, M. Bartsch-Sandhoff, R. Terinde, W. Wiegelmann
Rok vydání:	1976
Předmět:	Proband Gynecology congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Cubitus valgus Short neck Karyotype Biology medicine.disease Short stature Human genetics Endocrinology Internal medicine Genetics medicine medicine.symptom Genetics (clinical)
Zdroj:	Human Genetics. 31:263-270
ISSN:	1432-1203 0340-6717
DOI:	10.1007/bf00270856
Popis:	In a patient with a height of 1.46 m, short neck and cubitus valgus the unbalanced karyotype 46,Xdel(X)(p22) was found. The mother of the proband has the balanced karyotype 46,Xt(X;15)(p22;p1). The mother is 1.56 m tall and has a short neck and cubitus valgus too. For this reason the deletion of the Xp22 band seems to cause the short stature of Turner patients. Our proband has had 2 pregnancies which ended as abortions in the 2nd and 4th month.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::15abd07b4aa6f23befb967b516bbeeab https://doi.org/10.1007/bf00270856 Zobrazit plný text záznamu Full text from SpringerLink