PubMed · 1977 · 16 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal TranslocationsCongenital AnomaliesCongenital Ear AnomaliesCongenital MalformationsCongenital Oral AnomaliesCongenital Anomalies GeneticsEtiology Of Congenital AnomaliesFetal Chromosomal AbnormalitiesKaryotypic AbnormalitiesKaryotypic Abnormality DetectionMultiple Congenital AnomaliesNumerical Karyotype AbnormalitiesUnbalanced Chromosomal Translocation
A female infant with multiple congenital anomalies was found to have an abnormal karyotype: 45,XX,--6,--15, +t (6;15). Precise identification of the translocation was made by trypsin-Giemsa banding technic. The congenital malformations include hypertelorism, microphthalmia, beak nose, low-set ears, cleft palate, micrognathia, simian crease, hypertrichosis, and low hairline. The unbalanced translocation is apparently responsible for the abnormal phenotype.