Trisomy 13 and Rubinstein-Taybi syndrome

Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Journal of medical genetics 1975-03, Vol.12 (1), p.104-105
Hauptverfasser:	Garcia, F P, Hsu, L Y, Fox, H, Gribetz, D
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Chromosomes, Human, 13-15 Diagnosis, Differential Female Humans Infant, Newborn Karyotyping Leukocytes - ultrastructure Prognosis Rubinstein-Taybi Syndrome - diagnosis Trisomy
Online-Zugang:	Volltext
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